ClinVar Miner

Submissions for variant NM_024422.6(DSC2):c.2139G>A (p.Thr713=)

gnomAD frequency: 0.00006  dbSNP: rs112532429
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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000154698 SCV000204377 likely benign not specified 2012-03-19 criteria provided, single submitter clinical testing p.Thr713Thr in Exon 14 of DSC2: This variant is not expected to have clinical si gnificance because it does not alter an amino acid residue, is not located withi n the splice consensus sequence. It has been identified in 1/7020 European Ameri can chromosomes from a broad population by the NHLBI Exome Sequencing Project (h ttp://evs.gs.washington.edu/EVS; dbSNP rs112532429).
GeneDx RCV001711214 SCV000520923 likely benign not provided 2018-07-06 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000868396 SCV001009722 benign Arrhythmogenic right ventricular dysplasia 11 2024-01-31 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000868396 SCV001285791 uncertain significance Arrhythmogenic right ventricular dysplasia 11 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, this variant could not be ruled out of causing disease and therefore its association with disease required further investigation. A literature search was performed for the gene, cDNA change, and amino acid change (if applicable). No publications were found based on this search. This variant was therefore classified as a variant of unknown significance for this disease.
Color Diagnostics, LLC DBA Color Health RCV001186911 SCV001353523 likely benign Cardiomyopathy 2018-11-08 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000154698 SCV001554537 likely benign not specified 2021-03-25 criteria provided, single submitter clinical testing
Ambry Genetics RCV002426744 SCV002730059 likely benign Cardiovascular phenotype 2020-10-29 criteria provided, single submitter clinical testing This alteration is classified as likely 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.
All of Us Research Program, National Institutes of Health RCV003998258 SCV004816093 likely benign Familial isolated arrhythmogenic right ventricular dysplasia 2024-01-11 criteria provided, single submitter clinical testing

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