Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Myriad Genetics, |
RCV001264283 | SCV001442386 | likely pathogenic | Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency | 2019-03-30 | criteria provided, single submitter | clinical testing | |
Invitae | RCV003660880 | SCV004382174 | pathogenic | not provided | 2023-06-09 | 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: 984273). This variant has not been reported in the literature in individuals affected with MUT-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Gly133*) 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). |