ClinVar Miner

Submissions for variant NM_000255.4(MMUT):c.1777G>C (p.Glu593Gln)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000806421 SCV000946418 uncertain significance Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency 2018-08-16 criteria provided, single submitter clinical testing This sequence change replaces glutamic acid with glutamine at codon 593 of the MUT protein (p.Glu593Gln). The glutamic acid residue is highly conserved and there is a small physicochemical difference between glutamic acid and glutamine. This variant is present in population databases (rs148285323, ExAC 0.06%). This variant has not been reported in the literature in individuals with MUT-related disease. Algorithms developed to predict the effect of missense changes on protein structure and function 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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