ClinVar Miner

Submissions for variant NM_004006.2(DMD):c.2617T>C (p.Cys873Arg) (rs200872948)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000445178 SCV000522677 likely benign not specified 2016-02-10 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000727237 SCV000706863 uncertain significance not provided 2018-08-09 criteria provided, single submitter clinical testing
Ambry Genetics RCV000621146 SCV000736999 uncertain significance Cardiovascular phenotype 2019-05-02 criteria provided, single submitter clinical testing Insufficient evidence
Invitae RCV000820116 SCV000960811 uncertain significance Duchenne muscular dystrophy 2018-09-13 criteria provided, single submitter clinical testing This sequence change replaces cysteine with arginine at codon 873 of the DMD protein (p.Cys873Arg). The cysteine residue is highly conserved and there is a large physicochemical difference between cysteine and arginine. This variant is present in population databases (rs200872948, ExAC 0.004%), including at least one homozygous and/or hemizygous individual. This variant has not been reported in the literature in individuals with DMD-related disease. ClinVar contains an entry for this variant (Variation ID: 382670). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). 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.
Centre for Mendelian Genomics,University Medical Centre Ljubljana RCV001195878 SCV001366302 uncertain significance Elevated serum creatine phosphokinase; Myopathy; Paroxysmal dystonia; Exercise-induced myalgia; Lower limb muscle weakness; Myotonia of the lower limb; Cold-sensitive myotonia; Muscular hypotonia 2018-12-11 criteria provided, single submitter clinical testing This variant was classified as: Uncertain significance. The available evidence on this varinat's pathogenicity is insufficient or conflicting. The following ACMG criteria were applied in classifying this variant: PM2,PP3,PP5. This variant was detected in heterozygous state.

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