ClinVar Miner

Submissions for variant NM_004415.4(DSP):c.1725T>C (p.Asp575=)

gnomAD frequency: 0.00001  dbSNP: rs756392585
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000458292 SCV000555779 likely benign Arrhythmogenic cardiomyopathy with wooly hair and keratoderma; Arrhythmogenic right ventricular dysplasia 8 2024-12-10 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV001180071 SCV001344925 likely benign Cardiomyopathy 2018-07-20 criteria provided, single submitter clinical testing
Ambry Genetics RCV002411525 SCV002715611 likely benign Cardiovascular phenotype 2019-10-31 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 RCV004002029 SCV004817311 likely benign Arrhythmogenic cardiomyopathy with wooly hair and keratoderma 2024-06-11 criteria provided, single submitter clinical testing

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