ClinVar Miner

Submissions for variant NM_004006.3(DMD):c.2762T>G (p.Val921Gly)

dbSNP: rs779873011
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001226609 SCV001398930 uncertain significance Duchenne muscular dystrophy 2019-08-14 criteria provided, single submitter clinical testing This sequence change replaces valine with glycine at codon 921 of the DMD protein (p.Val921Gly). The valine residue is moderately conserved and there is a moderate physicochemical difference between valine and glycine. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. This variant has not been reported in the literature in individuals with DMD-related conditions. This variant is not present in population databases (ExAC no frequency).
Natera, Inc. RCV001828811 SCV002089676 uncertain significance Becker muscular dystrophy; Duchenne muscular dystrophy; Cardiomyopathy; Dystrophin deficiency 2019-06-10 no assertion criteria provided clinical testing

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