ClinVar Miner

Submissions for variant NM_004415.4(DSP):c.4698G>A (p.Leu1566=)

gnomAD frequency: 0.00001  dbSNP: rs751608838
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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 RCV001405415 SCV001607336 likely benign Arrhythmogenic cardiomyopathy with wooly hair and keratoderma; Arrhythmogenic right ventricular dysplasia 8 2024-06-28 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV001525382 SCV001735460 likely benign Cardiomyopathy 2020-09-15 criteria provided, single submitter clinical testing
GeneDx RCV001615157 SCV001839130 likely benign not provided 2019-08-21 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 29582519)
Ambry Genetics RCV004038007 SCV005022467 likely benign Cardiovascular phenotype 2024-02-24 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.

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