Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
University Children's Hospital, |
RCV000236434 | SCV000262781 | pathogenic | Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency | criteria provided, single submitter | clinical testing | ||
Invitae | RCV001376599 | SCV001232830 | pathogenic | not provided | 2023-07-28 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Tyr110*) in the MUT gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in MUT are known to be pathogenic (PMID: 15781192). This variant is present in population databases (no rsID available, gnomAD 0.002%). This premature translational stop signal has been observed in individual(s) with methylmalonic aciduria (PMID: 27167370). ClinVar contains an entry for this variant (Variation ID: 222909). For these reasons, this variant has been classified as Pathogenic. |