ClinVar Miner

Submissions for variant NM_177438.3(DICER1):c.1935G>A (p.Pro645=)

gnomAD frequency: 0.00958  dbSNP: rs61751177
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Total submissions: 15
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Department of Pathology and Laboratory Medicine, Sinai Health System RCV001081721 SCV005912863 benign DICER1-related tumor predisposition 2022-07-13 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV000206433 SCV005210865 likely benign not provided criteria provided, single submitter not provided
KCCC/NGS Laboratory, Kuwait Cancer Control Center RCV003316151 SCV004017389 benign Pleuropulmonary blastoma 2023-07-07 criteria provided, single submitter clinical testing
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital RCV000242500 SCV002551547 benign not specified 2025-03-04 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000242500 SCV002046816 benign not specified 2021-03-30 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000206433 SCV001473424 benign not provided 2024-09-16 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000206433 SCV001149326 benign not provided 2025-06-01 criteria provided, single submitter clinical testing DICER1: BP4, BP7, BS1, BS2
Ambry Genetics RCV000494239 SCV000581543 benign Hereditary cancer-predisposing syndrome 2016-04-21 criteria provided, single submitter clinical testing This alteration is classified as benign based on a combination of the following: seen in unaffected individuals, 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.
GeneDx RCV000242500 SCV000518988 benign not specified 2017-05-10 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.
Illumina Laboratory Services, Illumina RCV001081721 SCV000389758 benign DICER1-related tumor predisposition 2018-01-13 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.
PreventionGenetics, part of Exact Sciences RCV000242500 SCV000314667 benign not specified 2017-01-31 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001081721 SCV000262453 benign DICER1-related tumor predisposition 2025-02-04 criteria provided, single submitter clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) RCV000242500 SCV002035884 benign not specified no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000242500 SCV001971814 benign not specified no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, Amsterdam University Medical Center RCV000242500 SCV001809190 benign not specified no assertion criteria provided clinical testing

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