ClinVar Miner

Submissions for variant NM_001927.4(DES):c.785A>T (p.Glu262Val)

gnomAD frequency: 0.00083  dbSNP: rs147327878
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Total submissions: 10
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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 RCV000037252 SCV000060909 uncertain significance not specified 2016-08-14 criteria provided, single submitter clinical testing Variant classified as Uncertain Significance - Favor Benign. The p.Glu262Val var iant in DES has been identified by our laboratory in 3 African American individu als with features of DCM but is also present in 0.2% (25/10192) of African chrom osomes in the Exome Aggregation Consortium database (ExAC, http://exac.broadinst itute.org; dbSNP rs147327878). Computational prediction tools and conservation a nalysis suggest that the p.Glu262Val variant may impact the protein, though this information is not predictive enough to determine pathogenicity. In summary, wh ile the clinical significance of the p.Glu262Val variant is uncertain, its frequ ency suggests that it is more likely to be benign.
GeneDx RCV000711441 SCV000235781 uncertain significance not provided 2023-04-12 criteria provided, single submitter clinical testing Variant reported in the published literature in a 24-year-old African American male with reduced ejection fraction, arrhythmia, and family history of cardiomyopathy (Pugh et al., 2014); 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: 24503780, 26807690, 26582918, 29926427)
Eurofins Ntd Llc (ga) RCV000711441 SCV000344393 uncertain significance not provided 2018-01-07 criteria provided, single submitter clinical testing
Invitae RCV001081604 SCV000654182 likely benign Desmin-related myofibrillar myopathy 2024-01-31 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000711441 SCV000841807 uncertain significance not provided 2020-11-11 criteria provided, single submitter clinical testing
Ambry Genetics RCV002408512 SCV002670935 likely benign Cardiovascular phenotype 2019-02-27 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: 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.
Revvity Omics, Revvity Omics RCV000711441 SCV003829012 uncertain significance not provided 2021-09-13 criteria provided, single submitter clinical testing
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario RCV003486561 SCV004240482 likely benign Cardiomyopathy 2023-04-24 criteria provided, single submitter clinical testing
Clinical Genetics, Academic Medical Center RCV000711441 SCV001917909 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000037252 SCV001965651 benign not specified no assertion criteria provided clinical testing

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