Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001386564 | SCV001586827 | pathogenic | Pyruvate carboxylase deficiency | 2020-04-02 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in PC are known to be pathogenic (PMID: 12112657, 19306334). This variant has not been reported in the literature in individuals with PC-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Gln348*) in the PC gene. It is expected to result in an absent or disrupted protein product. |