ClinVar Miner

Submissions for variant NM_001927.4(DES):c.640-4C>G

gnomAD frequency: 0.00001  dbSNP: rs375680081
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000441822 SCV000520524 likely benign not specified 2015-11-11 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Labcorp Genetics (formerly Invitae), Labcorp RCV001448868 SCV001651971 likely benign Desmin-related myofibrillar myopathy 2024-12-10 criteria provided, single submitter clinical testing
Ambry Genetics RCV002365495 SCV002661196 likely benign Cardiovascular phenotype 2024-06-07 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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