ClinVar Miner

Submissions for variant NM_004415.4(DSP):c.783G>A (p.Ala261=)

gnomAD frequency: 0.00003  dbSNP: rs764596108
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Color Diagnostics, LLC DBA Color Health RCV001192128 SCV001360108 likely benign Cardiomyopathy 2019-02-21 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002069182 SCV002358537 likely benign Arrhythmogenic cardiomyopathy with wooly hair and keratoderma; Arrhythmogenic right ventricular dysplasia 8 2024-08-08 criteria provided, single submitter clinical testing
Ambry Genetics RCV003373018 SCV004079844 likely benign Cardiovascular phenotype 2023-08-29 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 RCV004010572 SCV004816666 likely benign Arrhythmogenic cardiomyopathy with wooly hair and keratoderma 2024-04-25 criteria provided, single submitter clinical testing

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