ClinVar Miner

Submissions for variant NM_004006.3(DMD):c.245G>C (p.Arg82Pro)

dbSNP: rs1228664222
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000698008 SCV000826646 uncertain significance Duchenne muscular dystrophy 2024-12-25 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with proline, which is neutral and non-polar, at codon 82 of the DMD protein (p.Arg82Pro). This variant is not present in population databases (gnomAD no frequency). This missense change has been observed in individual(s) with Becker muscular dystrophy (PMID: 15952989; internal data). This variant is also known as G453C. ClinVar contains an entry for this variant (Variation ID: 575707). Invitae Evidence Modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) 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.
Eurofins Ntd Llc (ga) RCV000727670 SCV000854980 uncertain significance not provided 2017-09-19 criteria provided, single submitter clinical testing
GeneDx RCV000727670 SCV001985989 uncertain significance not provided 2019-09-10 criteria provided, single submitter clinical testing Not observed in large population cohorts (Lek et al., 2016); In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; Missense variant in a gene in which most reported pathogenic variants are truncating/loss-of-function; This variant is associated with the following publications: (PMID: 20457930, 15952989)
Natera, Inc. RCV001825369 SCV002092924 uncertain significance Becker muscular dystrophy; Duchenne muscular dystrophy; Cardiomyopathy; Dystrophin deficiency 2020-04-15 no assertion criteria provided clinical testing

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