Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Counsyl | RCV000666070 | SCV000790307 | likely pathogenic | Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency | 2017-03-10 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001376553 | SCV000933679 | pathogenic | not provided | 2023-10-18 | criteria provided, single submitter | clinical testing | This sequence change replaces glycine, which is neutral and non-polar, with arginine, which is basic and polar, at codon 642 of the MUT protein (p.Gly642Arg). This variant is present in population databases (rs747897332, gnomAD 0.005%). This missense change has been observed in individual(s) with methylmalonic aciduria (PMID: 15643616, 16281286, 22614770, 24059531, 32754920). ClinVar contains an entry for this variant (Variation ID: 551102). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is expected to disrupt MUT protein function. For these reasons, this variant has been classified as Pathogenic. |
Gene |
RCV001376553 | SCV001784395 | pathogenic | not provided | 2021-01-07 | criteria provided, single submitter | clinical testing | Not observed at a significant frequency in large population cohorts (Lek et al., 2016); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 15643616, 22614770, 16281286, 24059531, 26790480) |