Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV002561214 | SCV001377385 | uncertain significance | not provided | 2022-08-09 | criteria provided, single submitter | clinical testing | This sequence change replaces arginine, which is basic and polar, with leucine, which is neutral and non-polar, at codon 588 of the MUT protein (p.Arg588Leu). This variant is present in population databases (rs141829043, gnomAD 0.05%). This variant has not been reported in the literature in individuals affected with MUT-related conditions. ClinVar contains an entry for this variant (Variation ID: 937137). Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The leucine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. 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. |
Fulgent Genetics, |
RCV001206094 | SCV002775287 | uncertain significance | Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency | 2022-02-02 | criteria provided, single submitter | clinical testing | |
Natera, |
RCV001828652 | SCV002077366 | uncertain significance | Methylmalonic aciduria due to complete methylmalonyl-CoA mutase deficiency | 2020-05-15 | no assertion criteria provided | clinical testing |