Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
DASA | RCV002308496 | SCV002600243 | likely pathogenic | 3-methylglutaconic aciduria type 9 | 2022-11-03 | criteria provided, single submitter | clinical testing | The c.328C>T;p.(Gln110*) variant creates a premature translational stop signal in the TIMM50 gene. It is expected to result in an absent or disrupted protein product - PVS1.This variant is not present in population databases (rs1457024558, gnomAD; ABraOM no frequency - http://abraom.ib.usp.br/) - PM2. In summary, the currently available evidence indicates that the variant is likely pathogenic. |