ClinVar Miner

Submissions for variant NM_004006.3(DMD):c.1835A>T (p.Lys612Met)

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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 RCV002643201 SCV002981170 uncertain significance Duchenne muscular dystrophy 2021-08-20 criteria provided, single submitter clinical testing This sequence change replaces lysine with methionine at codon 612 of the DMD protein (p.Lys612Met). The lysine residue is moderately conserved and there is a moderate physicochemical difference between lysine and methionine. 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 output the following: SIFT: "Tolerated"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0". The methionine 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.

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