ClinVar Miner

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

gnomAD frequency: 0.00010  dbSNP: rs146029947
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Total submissions: 5
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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: 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.
Invitae 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

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