Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000698019 | SCV000826657 | pathogenic | Pyruvate carboxylase deficiency | 2021-03-22 | criteria provided, single submitter | clinical testing | This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Ala125Thrfs*79) in the PC gene. It is expected to result in an absent or disrupted protein product. This variant has not been reported in the literature in individuals with PC-related disease. For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in PC are known to be pathogenic (PMID: 12112657, 19306334). |