ClinVar Miner

Submissions for variant NM_004006.3(DMD):c.10501G>A (p.Glu3501Lys)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002603002 SCV003496910 uncertain significance Duchenne muscular dystrophy 2023-04-05 criteria provided, single submitter clinical testing ClinVar contains an entry for this variant (Variation ID: 2180796). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt DMD 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. This variant has not been reported in the literature in individuals affected with DMD-related conditions. This sequence change replaces glutamic acid, which is acidic and polar, with lysine, which is basic and polar, at codon 3501 of the DMD protein (p.Glu3501Lys). This variant is not present in population databases (gnomAD no frequency).

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