ClinVar Miner

Submissions for variant NM_004006.3(DMD):c.1481A>G (p.Lys494Arg)

dbSNP: rs1556853018
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000617247 SCV000736450 uncertain significance Cardiovascular phenotype 2017-11-03 criteria provided, single submitter clinical testing The p.K494R variant (also known as c.1481A>G), located in coding exon 12 of the DMD gene, results from an A to G substitution at nucleotide position 1481. The lysine at codon 494 is replaced by arginine, an amino acid with highly similar properties. This amino acid position is highly conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Labcorp Genetics (formerly Invitae), Labcorp RCV001239025 SCV001411870 uncertain significance Duchenne muscular dystrophy 2023-11-01 criteria provided, single submitter clinical testing This sequence change replaces lysine, which is basic and polar, with arginine, which is basic and polar, at codon 494 of the DMD protein (p.Lys494Arg). 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: 518865). An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be disruptive. 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.
GeneDx RCV001764727 SCV001989539 uncertain significance not provided 2019-05-09 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

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