ClinVar Miner

Submissions for variant NM_004006.3(DMD):c.5123A>G (p.Lys1708Arg)

gnomAD frequency: 0.00001  dbSNP: rs775302077
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001247664 SCV001421100 uncertain significance Duchenne muscular dystrophy 2021-08-30 criteria provided, single submitter clinical testing This sequence change replaces lysine with arginine at codon 1708 of the DMD protein (p.Lys1708Arg). The lysine residue is moderately conserved and there is a small physicochemical difference between lysine and arginine. This variant is present in population databases (rs775302077, ExAC 0.01%). This variant has not been reported in the literature in individuals affected with DMD-related conditions. Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The arginine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. 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.
Ambry Genetics RCV002348844 SCV002646533 uncertain significance Cardiovascular phenotype 2020-07-06 criteria provided, single submitter clinical testing The p.K1708R variant (also known as c.5123A>G), located in coding exon 36 of the DMD gene, results from an A to G substitution at nucleotide position 5123. The lysine at codon 1708 is replaced by arginine, an amino acid with highly similar properties. This amino acid position is not well conserved in available vertebrate species, and arginine is the reference amino acid in other 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.
Natera, Inc. RCV001830018 SCV002093538 uncertain significance Becker muscular dystrophy; Duchenne muscular dystrophy; Cardiomyopathy; Dystrophin deficiency 2018-10-09 no assertion criteria provided clinical testing

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