ClinVar Miner

Submissions for variant NM_004006.3(DMD):c.2645A>T (p.Asp882Val)

gnomAD frequency: 0.00001  dbSNP: rs228406
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001539725 SCV001757528 uncertain significance not provided 2019-07-11 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; Not observed in large population cohorts (Lek et al., 2016); In silico analysis, which includes protein predictors and evolutionary conservation, supports that this variant does not alter protein structure/function
Ambry Genetics RCV002458513 SCV002739730 uncertain significance Cardiovascular phenotype 2019-12-04 criteria provided, single submitter clinical testing The p.G882V variant (also known as c.2645G>T), located in coding exon 21 of the DMD gene, results from a G to T substitution at nucleotide position 2645. The glycine at codon 882 is replaced by valine, an amino acid with dissimilar properties. This amino acid position is poorly conserved in available vertebrate species, and valine is the reference amino acid in other vertebrate species. In addition, this alteration is predicted to be tolerated by SIFT in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Labcorp Genetics (formerly Invitae), Labcorp RCV002568248 SCV003494240 uncertain significance Duchenne muscular dystrophy 2024-03-16 criteria provided, single submitter clinical testing This sequence change replaces glycine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 882 of the DMD protein (p.Gly882Val). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with DMD-related conditions. ClinVar contains an entry for this variant (Variation ID: 1182162). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt DMD protein function with a negative predictive value of 95%. 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.
Natera, Inc. RCV001832735 SCV002089696 uncertain significance Becker muscular dystrophy; Duchenne muscular dystrophy; Cardiomyopathy; Dystrophin deficiency 2020-08-02 no assertion criteria provided clinical testing

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