ClinVar Miner

Submissions for variant NM_001943.5(DSG2):c.873G>A (p.Thr291=)

gnomAD frequency: 0.00004  dbSNP: rs760706353
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000250340 SCV000319091 likely benign Cardiovascular phenotype 2017-08-04 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.
Color Diagnostics, LLC DBA Color Health RCV001183767 SCV001349588 likely benign Cardiomyopathy 2018-10-22 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001466583 SCV001670587 likely benign Arrhythmogenic right ventricular dysplasia 10 2023-12-09 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV003999037 SCV004819482 likely benign Arrhythmogenic right ventricular cardiomyopathy 2024-02-05 criteria provided, single submitter clinical testing

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