Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Myriad Genetics, |
RCV001264158 | SCV001442259 | likely pathogenic | Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency | 2019-04-29 | criteria provided, single submitter | clinical testing | |
Invitae | RCV003688930 | SCV004433506 | pathogenic | not provided | 2023-02-15 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Trp329*) 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 (rs750475071, gnomAD 0.007%). This variant has not been reported in the literature in individuals affected with MUT-related conditions. ClinVar contains an entry for this variant (Variation ID: 984150). For these reasons, this variant has been classified as Pathogenic. |