ClinVar Miner

Submissions for variant NM_004415.4(DSP):c.1383T>C (p.Ile461=)

gnomAD frequency: 0.00001  dbSNP: rs1758933736
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001474869 SCV001679046 likely benign Arrhythmogenic cardiomyopathy with wooly hair and keratoderma; Arrhythmogenic right ventricular dysplasia 8 2024-04-18 criteria provided, single submitter clinical testing
Ambry Genetics RCV003298830 SCV004007828 likely benign Cardiovascular phenotype 2023-05-11 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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