ClinVar Miner

Submissions for variant NM_001927.4(DES):c.1180G>A (p.Val394Met)

gnomAD frequency: 0.00001  dbSNP: rs776786349
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000335144 SCV000344720 uncertain significance not provided 2016-08-08 criteria provided, single submitter clinical testing
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario RCV001171071 SCV001333741 benign Cardiomyopathy 2018-04-17 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001441657 SCV001644588 likely benign Desmin-related myofibrillar myopathy 2022-12-05 criteria provided, single submitter clinical testing
GeneDx RCV000335144 SCV002584007 uncertain significance not provided 2023-02-27 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 30564623, 26807690)
Ambry Genetics RCV003352824 SCV004056232 benign Cardiovascular phenotype 2023-09-06 criteria provided, single submitter clinical testing This alteration is classified as 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.
PreventionGenetics, part of Exact Sciences RCV004742370 SCV005353624 likely benign DES-related disorder 2024-09-03 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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