ClinVar Miner

Submissions for variant NM_024422.6(DSC2):c.2314G>A (p.Val772Met)

gnomAD frequency: 0.00010  dbSNP: rs146029947
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 7
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Biesecker Lab/Clinical Genomics Section, National Institutes of Health RCV000171889 SCV000050901 uncertain significance not provided 2013-06-24 criteria provided, single submitter research
GeneDx RCV000171889 SCV000233408 uncertain significance not provided 2022-11-17 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant does not alter protein structure/function; Reported in a cohort of individuals not selected for a history of arrhythmia, cardiomyopathy, or family history of sudden cardiac death who underwent exome analysis (Ng et al., 2013); clinical details were not provided; This variant is associated with the following publications: (PMID: 23861362)
Ambry Genetics RCV000242264 SCV000317867 benign Cardiovascular phenotype 2022-01-06 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV000644644 SCV000766347 likely benign Arrhythmogenic right ventricular dysplasia 11 2024-01-25 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV001179306 SCV001343937 likely benign Cardiomyopathy 2018-11-18 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV003995656 SCV004816071 likely benign Familial isolated arrhythmogenic right ventricular dysplasia 2023-12-13 criteria provided, single submitter clinical testing
Mayo Clinic Laboratories, Mayo Clinic RCV000171889 SCV005408596 uncertain significance not provided 2024-03-07 criteria provided, single submitter clinical testing BP4

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.