ClinVar Miner

Submissions for variant NM_000255.4(MMUT):c.1324G>C (p.Ala442Pro) (rs1554159871)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000699494 SCV000828207 uncertain significance Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency 2018-06-14 criteria provided, single submitter clinical testing This sequence change replaces alanine with proline at codon 442 of the MUT protein (p.Ala442Pro). The alanine residue is highly conserved and there is a small physicochemical difference between alanine and proline. This variant is not present in population databases (ExAC no frequency). This variant has been observed on the opposite chromosome (in trans) from a pathogenic variant in an individual affected with methylmalonic aciduria (Invitae). This finding is consistent with autosomal recessive inheritance, and suggests that this variant contributes to disease. 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: "Probably 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.

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