Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001045395 | SCV001209244 | uncertain significance | not provided | 2021-08-30 | criteria provided, single submitter | clinical testing | This sequence change replaces valine with isoleucine at codon 136 of the MUT protein (p.Val136Ile). The valine residue is highly conserved and there is a small physicochemical difference between valine and isoleucine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals affected with MUT-related conditions. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). 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, |
RCV002489589 | SCV002776088 | uncertain significance | Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency | 2021-12-16 | criteria provided, single submitter | clinical testing | |
Natera, |
RCV001832434 | SCV002075438 | uncertain significance | Methylmalonic aciduria due to complete methylmalonyl-CoA mutase deficiency | 2021-09-04 | no assertion criteria provided | clinical testing |