Total submissions: 3
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Counsyl | RCV000674917 | SCV000800332 | likely pathogenic | Peroxisome biogenesis disorder type 3B; Peroxisome biogenesis disorder 3A (Zellweger) | 2018-06-04 | criteria provided, single submitter | clinical testing | |
| Labcorp Genetics |
RCV001382391 | SCV001581142 | pathogenic | Peroxisome biogenesis disorder 3A (Zellweger) | 2023-09-29 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Gly321Metfs*12) in the PEX12 gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 39 amino acid(s) of the PEX12 protein. This variant is present in population databases (rs749650201, gnomAD 0.01%). This variant has not been reported in the literature in individuals affected with PEX12-related conditions. ClinVar contains an entry for this variant (Variation ID: 558619). This variant disrupts a region of the PEX12 protein in which other variant(s) (p.Gln337*) have been determined to be pathogenic (Invitae). This suggests that this is a clinically significant region of the protein, and that variants that disrupt it are likely to be disease-causing. For these reasons, this variant has been classified as Pathogenic. |
| Baylor Genetics | RCV001382391 | SCV004201428 | likely pathogenic | Peroxisome biogenesis disorder 3A (Zellweger) | 2023-10-07 | criteria provided, single submitter | clinical testing |