ClinVar Miner

Submissions for variant NM_001927.4(DES):c.1272T>C (p.Ser424=)

gnomAD frequency: 0.00001  dbSNP: rs370720293
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001417835 SCV001620041 likely benign Desmin-related myofibrillar myopathy 2025-01-11 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002501220 SCV002805956 likely benign Dilated cardiomyopathy 1I; Desmin-related myofibrillar myopathy; Neurogenic scapuloperoneal syndrome, Kaeser type 2021-09-03 criteria provided, single submitter clinical testing
Ambry Genetics RCV003362989 SCV004056243 likely benign Cardiovascular phenotype 2023-07-08 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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