ClinVar Miner

Submissions for variant NM_000255.4(MMUT):c.1867G>A (p.Gly623Arg) (rs121918254)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000427444 SCV000520995 pathogenic not provided 2017-01-31 criteria provided, single submitter clinical testing The G623R variant in the MUT gene has previously been reported in association with methylmalonic acidemia (MMA) in several unrelated individuals who were homozygous for G623R or heterozygous for G623R and another variant in the MUT gene (Qureshi et al., 1994; Worgan et al., 2006; Cosson et al., 2009). This variant is reported to be a common variant in individuals of African descent and functional analysis of G623R found that it is associated with significantly reduced enzyme activity compared to wild-type (Worgan et al., 2006; Janata et al., 1997). The G623R 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, and in silico analysis predicts this variant is probably damaging to the protein structure/function. Therefore we interpret G623R to be a pathogenic variant.
OMIM RCV000001961 SCV000022119 pathogenic METHYLMALONIC ACIDURIA, mut(0) TYPE 1994-04-01 no assertion criteria provided literature only
GeneReviews RCV000203390 SCV000258505 pathogenic Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency 2016-01-07 no assertion criteria provided literature only
Counsyl RCV000203390 SCV001132252 likely pathogenic Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency 2017-03-17 no assertion criteria provided clinical testing

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