Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
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 | |
Gene |
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 |