ClinVar Miner

Submissions for variant NM_004006.3(DMD):c.10961C>A (p.Thr3654Lys)

dbSNP: rs2034876653
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001219065 SCV001390986 uncertain significance Duchenne muscular dystrophy 2019-08-13 criteria provided, single submitter clinical testing This sequence change replaces threonine with lysine at codon 3654 of the DMD protein (p.Thr3654Lys). The threonine residue is highly conserved and there is a moderate physicochemical difference between threonine and lysine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals 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: "Possibly Damaging"; Align-GVGD: "Class C0"). 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.
Natera, Inc. RCV001828746 SCV002077566 uncertain significance Becker muscular dystrophy; Duchenne muscular dystrophy; Cardiomyopathy; Dystrophin deficiency 2021-08-11 no assertion criteria provided clinical testing

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