ClinVar Miner

Submissions for variant NM_004415.4(DSP):c.2265T>C (p.Asn755=)

gnomAD frequency: 0.00001  dbSNP: rs770798708
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Color Diagnostics, LLC DBA Color Health RCV001186855 SCV001353437 likely benign Cardiomyopathy 2019-02-08 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002068444 SCV002368393 likely benign Arrhythmogenic cardiomyopathy with wooly hair and keratoderma; Arrhythmogenic right ventricular dysplasia 8 2025-01-22 criteria provided, single submitter clinical testing
Ambry Genetics RCV004994299 SCV005575921 likely benign Cardiovascular phenotype 2024-10-07 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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