Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
University Children's Hospital, |
RCV000236977 | SCV000262802 | pathogenic | Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency | criteria provided, single submitter | clinical testing | ||
Invitae | RCV002515556 | SCV003439436 | pathogenic | not provided | 2023-08-10 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 222930). This premature translational stop signal has been observed in individual(s) with methylmalonic acidemia (PMID: 26270765). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Leu394Phefs*30) 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). |