ClinVar Miner

Submissions for variant NM_000255.4(MMUT):c.1865T>C (p.Met622Thr) (rs201536536)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000685776 SCV000813273 uncertain significance Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency 2018-06-29 criteria provided, single submitter clinical testing This sequence change replaces methionine with threonine at codon 622 of the MUT protein (p.Met622Thr). The methionine residue is highly conserved and there is a moderate physicochemical difference between methionine and threonine. This variant is present in population databases (rs201536536, ExAC 0.03%). 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 (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. 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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