Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001384114 | SCV001583499 | pathogenic | Pyruvate carboxylase deficiency | 2020-01-14 | criteria provided, single submitter | clinical testing | 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.Thr1035Tyrfs*15) in the PC gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in PC are known to be pathogenic (PMID: 12112657, 19306334). For these reasons, this variant has been classified as Pathogenic. |