ClinVar Miner

Submissions for variant NM_001927.4(DES):c.785A>T (p.Glu262Val) (rs147327878)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare 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 2018-06-11 criteria provided, single submitter clinical testing The E262V variant in the DES gene has been previously reported as a variant of uncertain significance in a 24 year-old African American male with reduced ejection fraction, arrhythmia and family history of cardiomyopathy (Pugh et al., 2014). This variant has also been observed in 0.26% (61/23,890) of alleles from individuals of African background, indicating that this it may be a rare benign variant in this population (Lek et al., 2016). However, E262V is a non-conservative amino acid substitution, which is likely to impact secondary protein structure as these residues differ in polarity, charge, size and/or other properties. Furthermore, in-silico analyses, including protein predictors and evolutionary conservation, support a deleterious effect.
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000711441 SCV000344393 uncertain significance not provided 2018-01-07 criteria provided, single submitter clinical testing
Invitae RCV001081604 SCV000654182 likely benign Myofibrillar myopathy 1; Muscular dystrophy, limb-girdle, type 2R 2020-11-21 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000711441 SCV000841807 uncertain significance not provided 2018-03-14 criteria provided, single submitter clinical testing

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