Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Counsyl | RCV000666980 | SCV000791361 | likely pathogenic | Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency | 2017-05-16 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001389281 | SCV001590585 | pathogenic | not provided | 2021-08-14 | criteria provided, single submitter | clinical testing | This sequence change replaces histidine with arginine at codon 627 of the MUT protein (p.His627Arg). The histidine residue is highly conserved and there is a small physicochemical difference between histidine and arginine. This variant is present in population databases (rs372486357, ExAC 0.003%). This missense change has been observed in individual(s) with clinical features of methylmalonic aciduria (PMID: 10923046, 15643616, 23430940, 26454439). Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive. For these reasons, this variant has been classified as Pathogenic. |
Fulgent Genetics, |
RCV000666980 | SCV002785670 | likely pathogenic | Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency | 2022-01-27 | criteria provided, single submitter | clinical testing | |
Natera, |
RCV001829838 | SCV002077362 | pathogenic | Methylmalonic aciduria due to complete methylmalonyl-CoA mutase deficiency | 2021-08-26 | no assertion criteria provided | clinical testing |