ClinVar Miner

Submissions for variant NM_001927.4(DES):c.1269C>T (p.Tyr423=)

dbSNP: rs765867148
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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 RCV000862321 SCV001002811 likely benign Desmin-related myofibrillar myopathy 2025-01-22 criteria provided, single submitter clinical testing
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario RCV001798993 SCV002043129 likely benign Cardiomyopathy 2020-05-05 criteria provided, single submitter clinical testing
Ambry Genetics RCV003338829 SCV004058496 likely benign Cardiovascular phenotype 2023-06-23 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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