ClinVar Miner

Submissions for variant NM_004006.2(DMD):c.2912A>T (p.Asp971Val)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Fulgent Genetics,Fulgent Genetics RCV000766089 SCV000897564 uncertain significance Becker muscular dystrophy; Duchenne muscular dystrophy; Dilated cardiomyopathy 3B 2018-10-31 criteria provided, single submitter clinical testing
Invitae RCV000694095 SCV000822522 uncertain significance Duchenne muscular dystrophy 2018-02-27 criteria provided, single submitter clinical testing This sequence change replaces aspartic acid with valine at codon 971 of the DMD protein (p.Asp971Val). The aspartic acid residue is weakly conserved and there is a large physicochemical difference between aspartic acid and valine. This variant is present in population databases (rs762154042, ExAC 0.03%). This variant has not been reported in the literature in individuals with DMD-related disease. Algorithms developed to predict the effect of missense changes on protein structure and function do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C25"). 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.

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