ClinVar Miner

Submissions for variant NM_004006.3(DMD):c.7733T>C (p.Met2578Thr)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002694836 SCV002989885 uncertain significance Duchenne muscular dystrophy 2021-08-24 criteria provided, single submitter clinical testing This sequence change replaces methionine with threonine at codon 2578 of the DMD protein (p.Met2578Thr). The methionine residue is highly conserved and there is a moderate physicochemical difference between methionine and threonine. This variant is not present in population databases (ExAC no frequency). 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.
Ambry Genetics RCV004066875 SCV005021524 uncertain significance Cardiovascular phenotype 2024-02-07 criteria provided, single submitter clinical testing The p.M2578T variant (also known as c.7733T>C), located in coding exon 53 of the DMD gene, results from a T to C substitution at nucleotide position 7733. The methionine at codon 2578 is replaced by threonine, an amino acid with similar properties. This amino acid position is highly conserved in available vertebrate species. In addition, this alteration is predicted to be deleterious by in silico analysis. Based on the available evidence, the clinical significance of this alteration remains unclear.

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