Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001853274 | SCV002162688 | pathogenic | not provided | 2022-02-08 | criteria provided, single submitter | clinical testing | 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"). For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 218986). This missense change has been observed in individual(s) with methylmalonic aciduria (PMID: 10923046, 16281286, 26615597, 27167370). This variant is not present in population databases (gnomAD no frequency). This sequence change replaces phenylalanine, which is neutral and non-polar, with serine, which is neutral and polar, at codon 174 of the MUT protein (p.Phe174Ser). |
Gene |
RCV000203368 | SCV000258496 | not provided | Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency | no assertion provided | literature only |