ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.29128G>A (p.Val9710Ile)

gnomAD frequency: 0.00099  dbSNP: rs72649002
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Total submissions: 27
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease, Montreal Heart Institute RCV000040087 SCV007541787 likely benign not specified 2026-03-27 criteria provided, single submitter clinical testing BS1;BP1
Mayo Clinic Laboratories, Mayo Clinic RCV000040087 SCV007326331 benign not specified 2025-08-27 criteria provided, single submitter clinical testing BS1, BS2, BP4_moderate
CeGaT Center for Human Genetics Tuebingen RCV000125737 SCV005891274 benign not provided 2025-07-01 criteria provided, single submitter clinical testing TTN: BP4, BS1, BS2
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000040087 SCV003801259 likely benign not specified 2023-01-21 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001132578 SCV002101915 benign Tibial muscular dystrophy 2021-09-10 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001133485 SCV002101914 benign Early-onset myopathy with fatal cardiomyopathy 2021-09-10 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001132579 SCV002101913 benign Myopathy, myofibrillar, 9, with early respiratory failure 2021-09-10 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001133486 SCV002101912 benign Autosomal recessive limb-girdle muscular dystrophy type 2J 2021-09-10 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV001133487 SCV001293189 likely benign Dilated cardiomyopathy 1G 2018-01-12 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as likely benign is not then subjected to further curation. The score for this variant resulted in a classification of likely benign for this disease.
Illumina Laboratory Services, Illumina RCV001133486 SCV001293188 likely benign Autosomal recessive limb-girdle muscular dystrophy type 2J 2018-01-12 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as likely benign is not then subjected to further curation. The score for this variant resulted in a classification of likely benign for this disease.
Illumina Laboratory Services, Illumina RCV001133485 SCV001293187 likely benign Early-onset myopathy with fatal cardiomyopathy 2018-01-12 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as likely benign is not then subjected to further curation. The score for this variant resulted in a classification of likely benign for this disease.
Illumina Laboratory Services, Illumina RCV001132579 SCV001292243 benign Myopathy, myofibrillar, 9, with early respiratory failure 2018-01-12 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
Illumina Laboratory Services, Illumina RCV001132578 SCV001292242 benign Tibial muscular dystrophy 2018-01-12 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000125737 SCV001156962 benign not provided 2024-07-25 criteria provided, single submitter clinical testing
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario RCV000769898 SCV000901324 benign Cardiomyopathy 2017-03-02 criteria provided, single submitter clinical testing
Athena Diagnostics RCV000125737 SCV000844668 benign not provided 2018-04-10 criteria provided, single submitter clinical testing
Ambry Genetics RCV000247893 SCV000318595 likely benign Cardiovascular phenotype 2013-05-05 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Labcorp Genetics (formerly Invitae), Labcorp RCV001081290 SCV000286559 benign Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2026-02-03 criteria provided, single submitter clinical testing
Eurofins Ntd Llc (ga) RCV000040087 SCV000203727 benign not specified 2013-11-26 criteria provided, single submitter clinical testing
GeneDx RCV000040087 SCV000169202 benign not specified 2013-04-05 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000040087 SCV000063778 benign not specified 2015-03-21 criteria provided, single submitter clinical testing p.Val8466Ile in exon 98 of TTN: This variant is not expected to have clinical si gnificance because it has been identified in 2.2% (160/7230) of East Asian chrom osomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org ; dbSNP rs72649002).
Biesecker Lab/Clinical Genomics Section, National Institutes of Health RCV000125737 SCV000051247 likely benign not provided 2013-06-24 criteria provided, single submitter research
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000040087 SCV001972231 benign not specified no assertion criteria provided clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV000040087 SCV001958099 benign not specified no assertion criteria provided clinical testing
Clinical Genetics, Academic Medical Center RCV000040087 SCV001917831 benign not specified no assertion criteria provided clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) RCV000125737 SCV001800022 likely benign not provided no assertion criteria provided clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV000125737 SCV001740358 likely benign not provided no assertion criteria provided clinical testing

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