ClinVar Miner

Submissions for variant NM_000255.4(MMUT):c.976A>G (p.Arg326Gly) (rs1085308002)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000489116 SCV000577814 likely pathogenic not provided 2015-04-29 criteria provided, single submitter clinical testing The R326G variant has not been published as a pathogenic variants, nor has it been reported as a benign polymorphism to our knowledge. The R326G 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 in nearby residues (Y316C, A324T, L328F, L328P) 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. Therefore, this variant is a strong candidate for a pathogenic variant, however the possibility that it is a benign variant cannot be excluded.

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