Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Genetic Services Laboratory, |
RCV000504155 | SCV000596244 | pathogenic | Pyruvate carboxylase deficiency | 2016-08-08 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000504155 | SCV003024076 | pathogenic | Pyruvate carboxylase deficiency | 2022-05-14 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Arg453*) 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). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with PC-related conditions. ClinVar contains an entry for this variant (Variation ID: 436166). For these reasons, this variant has been classified as Pathogenic. |
Baylor Genetics | RCV000504155 | SCV004202800 | likely pathogenic | Pyruvate carboxylase deficiency | 2023-09-22 | criteria provided, single submitter | clinical testing |