ClinVar Miner

Submissions for variant NM_001927.4(DES):c.114G>T (p.Ala38=)

dbSNP: rs368901105
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000037227 SCV000060884 likely benign not specified 2010-04-09 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000869830 SCV001011289 likely benign Desmin-related myofibrillar myopathy 2025-01-26 criteria provided, single submitter clinical testing
Ambry Genetics RCV003162322 SCV003878313 likely benign Cardiovascular phenotype 2023-02-05 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.

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