ClinVar Miner

Variants in gene POLG

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Gene type:

If a variant has more than one submission, it may be counted in more than one significance column. If this is the case, the total number of variants will be less than the sum of the other cells.

pathogenic likely pathogenic uncertain significance likely benign benign not provided total
238 284 1282 1019 127 45 2520

Condition and significance breakdown #

Total conditions: 80
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Progressive sclerosing poliodystrophy 216 166 961 932 63 0 2218
not provided 72 86 483 156 54 1 732
not specified 4 1 128 110 76 0 280
POLG-related disorder 28 28 120 85 6 9 243
Inborn genetic diseases 14 10 121 50 12 0 207
Progressive sclerosing poliodystrophy; Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1; Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1; Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis; Mitochondrial DNA depletion syndrome 4b 24 50 13 1 0 1 87
Progressive sclerosing poliodystrophy; Mitochondrial DNA depletion syndrome 1; Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1; Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1; Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis; Mitochondrial DNA depletion syndrome 4b 8 9 57 4 1 0 79
Hereditary spastic paraplegia 5 3 22 6 8 0 44
Mitochondrial disease 12 8 12 1 8 9 42
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1 11 7 10 0 5 0 33
Mitochondrial DNA depletion syndrome 15 15 0 0 0 0 30
Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis 13 9 1 0 5 0 28
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1 10 9 6 0 5 0 27
Mitochondrial DNA depletion syndrome 4b 11 5 7 1 5 0 26
Progressive sclerosing poliodystrophy; Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1; Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis; Mitochondrial DNA depletion syndrome 4b 3 6 1 0 0 2 11
Tip-toe gait 3 7 1 0 0 0 11
Autosomal recessive POLG-related disorders 2 7 0 0 0 0 9
Progressive sclerosing poliodystrophy; Mitochondrial DNA depletion syndrome 4b 6 4 0 0 0 0 9
Progressive sclerosing poliodystrophy; Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis; Mitochondrial DNA depletion syndrome 4b 0 3 3 0 0 0 6
Ovarian serous cystadenocarcinoma 0 0 0 0 0 5 5
See cases 1 1 3 0 0 0 5
Uterine corpus endometrial carcinoma 0 0 0 0 0 4 4
Abnormality of the nervous system 3 0 0 0 0 0 3
Cervical cancer 0 0 0 0 0 3 3
Intellectual disability 0 0 2 1 0 0 3
MELAS syndrome 0 2 1 0 0 0 3
Spinocerebellar ataxia with epilepsy 3 0 0 0 0 0 3
Thyroid cancer, nonmedullary, 1 0 0 0 0 0 3 3
Acute myeloid leukemia 0 0 0 0 0 2 2
Charcot-Marie-Tooth disease 0 0 2 0 0 0 2
Childhood myocerebrohepatopathy spectrum 2 0 0 0 0 0 2
Global developmental delay 2 0 0 0 0 0 2
Hepatocellular carcinoma 0 0 0 0 0 2 2
Hypertrophic cardiomyopathy 2 0 0 0 0 0 2
Limb-girdle muscular dystrophy 0 0 2 0 0 0 2
Malignant lymphoma, large B-cell, diffuse 0 0 0 0 0 2 2
Malignant tumor of urinary bladder 0 0 0 0 0 2 2
Mitochondrial DNA depletion syndrome 1 1 1 0 0 0 0 2
Mitochondrial DNA maintenance disorder 1 1 0 0 0 0 2
Neurodevelopmental delay 2 0 0 0 0 0 2
Possible mitochondrial disorder - nuclear genes 1 1 0 0 0 0 2
Sarcoma 0 0 0 0 0 2 2
Uterine carcinosarcoma 0 0 0 0 0 2 2
Acute rhabdomyolysis 0 1 0 0 0 0 1
Adrenocortical carcinoma, hereditary 0 0 0 0 0 1 1
Association with valproate-induced liver toxicity 0 0 0 0 0 1 1
Autosomal dominant non-syndromic intellectual disability 0 0 1 0 0 0 1
Charcot-Marie-Tooth disease axonal type 2U 0 0 1 0 0 0 1
Cholangiocarcinoma 0 0 0 0 0 1 1
Clear cell carcinoma of kidney 0 0 0 0 0 1 1
Colon adenocarcinoma 0 0 0 0 0 1 1
EEG abnormality 0 0 1 0 0 0 1
Early-onset Parkinson disease 20 0 0 1 0 0 0 1
Familial cancer of breast 0 0 0 0 0 1 1
Gastric cancer 0 0 0 0 0 1 1
Germ cell tumor of testis 0 0 0 0 0 1 1
Glioma susceptibility 1 0 0 0 0 0 1 1
Idiopathic camptocormia 1 0 0 0 0 0 1
Lennox-Gastaut syndrome 0 0 1 0 0 0 1
Lung cancer 0 0 0 0 0 1 1
Malignant tumor of esophagus 0 0 0 0 0 1 1
Melanoma 0 0 0 0 0 1 1
Mitochondrial DNA depletion syndrome 1; Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1; Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1; Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis; Mitochondrial DNA depletion syndrome 4b 0 0 1 0 0 0 1
Neonatal seizure 0 0 1 0 0 0 1
Obesity; Global developmental delay; Generalized epilepsy 1 0 0 0 0 0 1
Premature ovarian failure 0 1 0 0 0 0 1
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1; Mitochondrial DNA depletion syndrome 4b 0 0 1 0 0 0 1
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1; Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis; Mitochondrial DNA depletion syndrome 4b 0 0 1 0 0 0 1
Progressive external ophthalmoplegia with mitochondrial DNA deletions, digenic 1 0 0 0 0 0 1
Progressive sclerosing poliodystrophy; Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1; Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1; Mitochondrial DNA depletion syndrome 4b 1 0 0 0 0 0 1
Progressive sclerosing poliodystrophy; Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1; Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1; Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis; Spinocerebellar ataxia with epilepsy; Childhood myocerebrohepatopathy spectrum 0 0 0 0 0 1 1
Progressive sclerosing poliodystrophy; Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1; Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1; Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis; Spinocerebellar ataxia with epilepsy; POLG-related disorder 0 0 0 0 0 1 1
Progressive sclerosing poliodystrophy; Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1; Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1; Spinocerebellar ataxia with epilepsy 0 0 0 0 0 1 1
Progressive sclerosing poliodystrophy; Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1; Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis; Spinocerebellar ataxia with epilepsy; Mitochondrial DNA depletion syndrome 4b; Progressive external ophthalmoplegia with mitochondrial DNA deletions 0 0 0 0 0 1 1
Progressive sclerosing poliodystrophy; Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis; Spinocerebellar ataxia with epilepsy 0 0 0 0 0 1 1
Recessive mitochondrial ataxia syndrome 1 0 0 0 0 0 1
Spinocerebellar atrophy 1 0 0 0 0 0 1
Squamous cell carcinoma of the head and neck 0 0 0 0 0 1 1
Squamous cell lung carcinoma 0 0 0 0 0 1 1
Vascular dementia 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 133
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Labcorp Genetics (formerly Invitae), Labcorp 169 71 937 866 40 0 2083
GeneDx 49 52 253 116 99 0 569
Wong Mito Lab, Molecular and Human Genetics, Baylor College of Medicine 68 37 67 129 40 0 341
Ambry Genetics 14 10 121 50 12 0 207
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 31 20 109 23 4 0 187
CeGaT Center for Human Genetics Tuebingen 22 11 78 59 5 0 175
PreventionGenetics, part of Exact Sciences 13 12 53 82 15 0 175
Athena Diagnostics 17 8 97 32 17 0 171
Eurofins Ntd Llc (ga) 14 3 132 11 9 0 169
Mayo Clinic Laboratories, Mayo Clinic 12 6 83 40 14 0 155
Fulgent Genetics, Fulgent Genetics 26 51 57 4 1 0 138
Baylor Genetics 50 66 12 0 0 0 127
Illumina Laboratory Services, Illumina 7 2 69 9 2 0 89
Revvity Omics, Revvity 15 10 31 1 0 0 57
Breakthrough Genomics, Breakthrough Genomics 2 1 1 17 23 0 44
Genome Diagnostics Laboratory, The Hospital for Sick Children 5 3 22 6 8 0 44
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 6 1 5 11 9 0 32
Genetic Services Laboratory, University of Chicago 3 2 11 9 1 0 26
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 2 4 7 3 9 0 25
ClinGen Mitochondrial Disease Nuclear and Mitochondrial Variant Curation Expert Panel, ClinGen 2 6 9 0 8 0 25
Dr. Peter K. Rogan Lab, Western University 0 0 0 0 0 24 24
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 12 4 6 0 0 0 22
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 5 0 3 13 0 0 21
OMIM 19 0 1 0 0 0 20
3billion 6 4 7 0 0 0 17
Department of Pathology and Laboratory Medicine, Sinai Health System 3 6 7 0 0 0 16
Mendelics 5 2 2 4 3 0 16
Genome Diagnostics Laboratory, University Medical Center Utrecht 2 0 0 11 2 0 15
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics 5 1 3 4 1 0 14
Institute of Human Genetics Munich, TUM University Hospital 11 3 0 0 0 0 14
AiLife Diagnostics, AiLife Diagnostics 2 6 4 0 0 0 12
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 2 1 7 2 0 0 12
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 3 5 4 0 0 0 12
Institute of Human Genetics, University of Leipzig Medical Center 4 3 6 0 0 0 11
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ 5 1 1 2 2 0 11
MGZ Medical Genetics Center 5 3 3 0 0 0 11
Practice for Gait Abnormalities, David Pomarino, Competency Network Toe Walking C/o Practice Pomarino 3 7 1 0 0 0 11
Variantyx, Inc. 3 8 0 0 0 0 11
Dasa 8 2 0 0 0 0 10
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 10 0 0 0 0 0 10
GeneReviews 0 0 0 0 0 9 9
Unidad de Genómica Garrahan, Hospital de Pediatría Garrahan 0 1 0 0 8 0 9
GenomeConnect, ClinGen 0 0 0 0 0 8 8
Genomic Research Center, Shahid Beheshti University of Medical Sciences 3 2 3 0 0 0 8
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 2 2 1 3 0 0 8
First Genomix Gene Laboratory, Genetic Diagnostics Department 2 5 0 0 0 0 7
Genetics and Molecular Pathology, SA Pathology 2 3 2 0 0 0 7
Genome Diagnostics Laboratory, Amsterdam University Medical Center 3 0 1 0 3 0 7
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 3 2 2 0 0 0 7
Laboratory of Inherited Metabolic Diseases, Research centre for medical genetics 2 5 0 0 0 0 7
Myriad Genetics, Inc. 1 6 0 0 0 0 7
Service de Génétique Médicale, Centre Hospitalier Universitaire de Nice-Université Côte d'Azur 0 7 0 0 0 0 7
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 6 6
Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden 2 3 1 0 0 0 6
Kariminejad - Najmabadi Pathology & Genetics Center 4 1 1 0 0 0 6
Mitochondrial Research Group, Newcastle University 6 0 0 0 0 0 6
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille 2 0 3 0 0 0 5
Genome-Nilou Lab 0 0 0 0 5 0 5
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 1 2 2 0 0 0 5
Laboratory of Genetics, Children's Clinical University Hospital Latvia 2 1 0 0 2 0 5
Cambridge Genomics Laboratory, East Genomic Laboratory Hub, NHS Genomic Medicine Service 0 0 3 1 0 0 4
Centre for Mendelian Genomics, University Medical Centre Ljubljana 4 0 0 0 0 0 4
Centre of Medical Genetics, University Hospital Muenster 2 0 2 0 0 0 4
Clinical Genetics Laboratory, Skane University Hospital Lund 3 0 1 0 0 0 4
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia 0 0 3 0 1 0 4
Juno Genomics, Hangzhou Juno Genomics, Inc 0 2 2 0 0 0 4
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) 2 0 1 1 0 0 4
Neuberg Centre For Genomic Medicine, NCGM 1 1 2 0 0 0 4
New York Genome Center 0 1 3 0 0 0 4
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 4 0 0 0 0 0 4
CENTOGENE GmbH and LLC - Guiding Precision Medicine 1 2 0 0 0 0 3
Clinical Molecular Genetics Laboratory, Johns Hopkins All Children's Hospital 0 0 3 0 0 0 3
Courtagen Diagnostics Laboratory, Courtagen Life Sciences 3 0 0 0 0 0 3
Daryl Scott Lab, Baylor College of Medicine 3 0 0 0 0 0 3
Division of Human Genetics, Children's Hospital of Philadelphia 2 1 0 0 0 0 3
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 1 1 1 0 0 0 3
Genetics Laboratory, Great Ormond Street Hospital NHS Foundation Trust, North Thames Genomic Laboratory Hub 1 2 0 0 0 0 3
GenomeConnect - Brain Gene Registry 0 0 0 0 0 3 3
Genomics England Pilot Project, Genomics England 0 3 0 0 0 0 3
Knight Diagnostic Laboratories, Oregon Health and Sciences University 0 3 0 0 0 0 3
Molecular Medicine for Neurodegenerative and Neuromuscular Diseases Unit, IRCCS Fondazione Stella Maris 3 0 0 0 0 0 3
SIB Swiss Institute of Bioinformatics 2 0 0 0 1 0 3
UNC Molecular Genetics Laboratory, University of North Carolina at Chapel Hill 3 0 0 0 0 0 3
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 2 0 0 0 0 0 2
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital 2 0 0 0 0 0 2
Center of Excellence in Genomics and Precision Dentistry, Faculty of Dentistry, Chulalongkorn University 2 0 0 0 0 0 2
Clinical Laboratory Sciences Program (CLSP), King Saud bin Abdulaziz University for Health Sciences (KSAU-HS) 0 0 1 1 0 0 2
Department of Genetics, Rouen University Hospital, Normandy Center for Genomic and Personalized Medicine 2 0 0 0 0 0 2
Department of Human Genetics, Hannover Medical School 2 0 0 0 0 0 2
Dubai Health Genomic Medicine Center, Dubai Health 1 0 1 0 0 0 2
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 2 0 0 0 0 0 2
Geisinger Autism and Developmental Medicine Institute, Geisinger Health System 1 1 0 0 0 0 2
Genesolutions, Medical Genetics Institutes, Ho Chi Minh City, Vietnam 1 0 1 0 0 0 2
Genetic Medico-Diagnostic Laboratory Genica 2 0 0 0 0 0 2
Inherited Neuropathy Consortium 0 0 2 0 0 0 2
Molecular Genetics, Royal Melbourne Hospital 2 0 0 0 0 0 2
Neurometabolic Diseases Laboratory, Bellvitge Biomedical Research Institute (IDIBELL) 1 0 1 0 0 0 2
Next Generation Genetic Polyclinic 2 0 0 0 0 0 2
Pediatric Department, Xiangya Hospital, Central South University 0 2 0 0 0 0 2
Pittsburgh Clinical Genomics Laboratory, University of Pittsburgh Medical Center 1 1 0 0 0 0 2
Servicio de Genética Del Instituto Nacional de Salud Del Niño, Ministerio de Salud 2 0 0 0 0 0 2
Undiagnosed Diseases Network, NIH 2 0 0 0 0 0 2
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 1 0 0 0 0 0 1
Cardiogenetic Research Center, Rajaie Cardiovascular Medical and Research Center, Iran University of Medical Sciences 0 0 1 0 0 0 1
Center for Personalized Medicine, Children's Hospital Los Angeles 0 0 1 0 0 0 1
Claritas Genomics 1 0 0 0 0 0 1
Clinical Genetics and Genomics, Karolinska University Hospital 1 0 0 0 0 0 1
Codex Genetics Limited 1 0 0 0 0 0 1
Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet 0 0 1 0 0 0 1
Department of Genetics, Sultan Qaboos University Hospital 1 0 0 0 0 0 1
Department of Neurology, University Hospital of Strasbourg 1 0 0 0 0 0 1
Department of Paediatrics at Addenbrookes, Cambridge University Hospitals NHS Foundation Trust (UK) 1 0 0 0 0 0 1
Dept. of Medical Genetics, Telemark Hospital Trust, Telemark Hospital Trust 0 0 1 0 0 0 1
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology 0 0 1 0 0 0 1
GenomeConnect - GM1 0 0 0 0 0 1 1
GenomeConnect-Association for Creatine Deficiencies, Association for Creatine Deficiencies 0 0 0 0 0 1 1
Human Genetics Bochum, Ruhr University Bochum 0 0 1 0 0 0 1
Institute of Human Genetics, Clinical Exome/Genome Diagnostics Group, University Hospital Bonn 0 0 1 0 0 0 1
Institute of Human Genetics, Cologne University 1 0 0 0 0 0 1
Institute of Human Genetics, University Hospital of Duesseldorf 0 1 0 0 0 0 1
Institute of Human Genetics, University of Goettingen 0 0 1 0 0 0 1
Institute of Medical Genetics and Genomics, Sir Ganga Ram Hospital 0 1 0 0 0 0 1
Johns Hopkins Genomics, Johns Hopkins University 0 0 1 0 0 0 1
MVZ Martinsried, Medicover Genetics 0 0 1 0 0 0 1
Medical Cytogenetics and Molecular Genetics Laboratory, IRCCS Istituto Auxologico Italiano 0 1 0 0 0 0 1
Medical and Scientific Branch, Hong Kong Genome Institute 0 1 0 0 0 0 1
Molecular Genetics and NGS Laboratory, Hospital Fundacion Valle Del Lili 1 0 0 0 0 0 1
Myllykangas group, University of Helsinki 0 0 1 0 0 0 1
NHS Central & South Genomic Laboratory Hub 0 1 0 0 0 0 1
Pediatric Department, Beijing Jishuitan Hospital, Capital Medical University 1 0 0 0 0 0 1
Shenzhen Institute of Pediatrics, Shenzhen Children's Hospital 0 1 0 0 0 0 1
Solve-RD Consortium 0 1 0 0 0 0 1
Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center 0 1 0 0 0 0 1

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