ClinVar Miner

Submissions for variant NM_004006.2(DMD):c.7429C>T (p.Arg2477Trp) (rs759274835)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000248044 SCV000319992 uncertain significance Cardiovascular phenotype 2015-08-06 criteria provided, single submitter clinical testing Rarity in general population databases (dbsnp, esp, 1000 genomes);In silico models in agreement (deleterious) and/or completely conserved position in appropriate species;Insufficient or conflicting evidence
Invitae RCV001067594 SCV001232662 uncertain significance Duchenne muscular dystrophy 2019-12-23 criteria provided, single submitter clinical testing This sequence change replaces arginine with tryptophan at codon 2477 of the DMD protein (p.Arg2477Trp). The arginine residue is moderately conserved and there is a moderate physicochemical difference between arginine and tryptophan. This variant is present in population databases (rs759274835, ExAC 0.03%), including at least one homozygous and/or hemizygous individual. This variant has not been reported in the literature in individuals with DMD-related conditions. ClinVar contains an entry for this variant (Variation ID: 264219). 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: "Benign"; Align-GVGD: "Class C35"). 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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