ClinVar Miner

Submissions for variant NM_000255.4(MMUT):c.571G>A (p.Ala191Thr) (rs1313120333)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000520146 SCV000619752 likely pathogenic not provided 2018-09-25 criteria provided, single submitter clinical testing The A191T variant in the MUT gene has not been reported previously as a pathogenic variant, nor as a benign variant, to our knowledge. The A191T variant is not observed in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). The A191T variant is a non-conservative amino acid substitution, which is likely to impact secondary protein structure as these residues differ in polarity, charge, size and/or other properties. This substitution occurs at a position that is conserved across species. In silico analysis predicts this variant is probably damaging to the protein structure/function. Missense variants at this residue (A191E) and in nearby residues (M186V, T187S, N189I, N189K, P194L) have been reported in the Human Gene Mutation Database in association with methylmalonic aciduria (Stenson et al., 2014), supporting the functional importance of this region of the protein. We interpret A191T as a likely pathogenic variant.

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