ClinVar Miner

Submissions for variant NM_024422.6(DSC2):c.2163G>A (p.Thr721=)

gnomAD frequency: 0.00002  dbSNP: rs773220437
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000419882 SCV000519125 likely benign not specified 2015-10-22 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Color Diagnostics, LLC DBA Color Health RCV000771984 SCV000904939 likely benign Cardiomyopathy 2018-10-17 criteria provided, single submitter clinical testing
Invitae RCV002062348 SCV002344356 likely benign Arrhythmogenic right ventricular dysplasia 11 2023-09-24 criteria provided, single submitter clinical testing
Ambry Genetics RCV002429379 SCV002729183 likely benign Cardiovascular phenotype 2022-09-26 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 RCV003996053 SCV004816088 likely benign Familial isolated arrhythmogenic right ventricular dysplasia 2023-05-31 criteria provided, single submitter clinical testing

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