Total submissions: 3
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Counsyl | RCV000670666 | SCV000795550 | likely pathogenic | Peroxisome biogenesis disorder 5A (Zellweger); Peroxisome biogenesis disorder 5B | 2017-11-09 | criteria provided, single submitter | clinical testing | |
| Baylor Genetics | RCV003472127 | SCV004201488 | likely pathogenic | Peroxisome biogenesis disorder 5A (Zellweger) | 2023-01-30 | criteria provided, single submitter | clinical testing | |
| Invitae | RCV003472127 | SCV004470535 | pathogenic | Peroxisome biogenesis disorder 5A (Zellweger) | 2022-12-31 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. This variant disrupts a region of the PEX2 protein in which other variant(s) (p.Leu207Serfs*10) 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. ClinVar contains an entry for this variant (Variation ID: 554942). This variant has not been reported in the literature in individuals affected with PEX2-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Arg119Metfs*3) in the PEX2 gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 187 amino acid(s) of the PEX2 protein. |