ClinVar Miner

Submissions for variant NM_000255.4(MMUT):c.395A>T (p.Gln132Leu)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000791648 SCV000930906 uncertain significance Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency 2018-12-19 criteria provided, single submitter clinical testing This sequence change replaces glutamine with leucine at codon 132 of the MUT protein (p.Gln132Leu). The glutamine residue is highly conserved and there is a moderate physicochemical difference between glutamine and leucine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with MUT-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 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.

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