ClinVar Miner

Submissions for variant NM_004415.4(DSP):c.4620C>T (p.Ile1540=)

gnomAD frequency: 0.00001  dbSNP: rs1385558717
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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 RCV001189206 SCV001356451 likely benign Cardiomyopathy 2020-01-07 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001410763 SCV001612814 likely benign Arrhythmogenic cardiomyopathy with wooly hair and keratoderma; Arrhythmogenic right ventricular dysplasia 8 2024-08-14 criteria provided, single submitter clinical testing
Ambry Genetics RCV003163466 SCV003867545 likely benign Cardiovascular phenotype 2022-11-02 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 RCV004010346 SCV004824695 likely benign Arrhythmogenic cardiomyopathy with wooly hair and keratoderma 2023-10-02 criteria provided, single submitter clinical testing

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