ClinVar Miner

Submissions for variant NM_004006.3(DMD):c.5525G>C (p.Arg1842Thr)

gnomAD frequency: 0.00001  dbSNP: rs376011686
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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 RCV001364361 SCV001560505 uncertain significance Duchenne muscular dystrophy 2021-08-24 criteria provided, single submitter clinical testing This sequence change replaces arginine with threonine at codon 1842 of the DMD protein (p.Arg1842Thr). The arginine residue is highly conserved and there is a moderate physicochemical difference between arginine and threonine. This variant is present in population databases (rs376011686, ExAC 0.002%). 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 are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C65"). 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.
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV004699338 SCV005204800 uncertain significance not specified 2024-06-17 criteria provided, single submitter clinical testing
Natera, Inc. RCV001831248 SCV002093493 uncertain significance Becker muscular dystrophy; Duchenne muscular dystrophy; Cardiomyopathy; Dystrophin deficiency 2019-03-22 no assertion criteria provided clinical testing

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