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
Labcorp Genetics (formerly Invitae), Labcorp RCV001247664 SCV001421100 uncertain significance Duchenne muscular dystrophy 2024-10-24 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 1708 of the DMD protein (p.Lys1708Arg). The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database. 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: 971796). Invitae Evidence Modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) indicates that this missense variant is not expected to disrupt DMD protein function with a negative predictive value of 95%. 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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