ClinVar Miner

Submissions for variant NM_001943.5(DSG2):c.2853G>A (p.Val951=)

gnomAD frequency: 0.00002  dbSNP: rs775759794
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000860995 SCV001001190 likely benign Arrhythmogenic right ventricular dysplasia 10 2023-12-13 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV001181797 SCV001347023 likely benign Cardiomyopathy 2018-12-31 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001531284 SCV001746312 likely benign not provided 2024-02-01 criteria provided, single submitter clinical testing DSG2: BP4, BP7
Ambry Genetics RCV002434057 SCV002745819 likely benign Cardiovascular phenotype 2022-04-25 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 RCV004002909 SCV004821845 likely benign Arrhythmogenic right ventricular cardiomyopathy 2023-11-30 criteria provided, single submitter clinical testing

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