Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001383248 | SCV001582336 | pathogenic | Pyruvate carboxylase deficiency | 2023-03-08 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 1070920). This variant has not been reported in the literature in individuals affected with PC-related conditions. This variant is present in population databases (rs766242199, gnomAD 0.003%). This sequence change creates a premature translational stop signal (p.Arg555*) 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). |