ClinVar Miner

Submissions for variant NM_004415.4(DSP):c.4173C>T (p.Tyr1391=)

gnomAD frequency: 0.00001  dbSNP: rs75537269
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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 RCV000236925 SCV000294307 likely benign Arrhythmogenic cardiomyopathy with wooly hair and keratoderma; Arrhythmogenic right ventricular dysplasia 8 2024-11-28 criteria provided, single submitter clinical testing
Ambry Genetics RCV000621880 SCV000737858 likely benign Cardiovascular phenotype 2017-01-05 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 RCV001176555 SCV001340574 likely benign Cardiomyopathy 2019-02-09 criteria provided, single submitter clinical testing
GeneDx RCV001668402 SCV001883039 likely benign not provided 2018-08-15 criteria provided, single submitter clinical testing

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