Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001210965 | SCV001382482 | pathogenic | Peroxisome biogenesis disorder 5A (Zellweger) | 2022-11-29 | 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.Arg119*) have been determined to be pathogenic (PMID: 1546315, 7681622, 9452066, 9585609, 10528859, 15542397, 21465523, 23430938). 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: 941223). This variant has not been reported in the literature in individuals affected with PEX2-related conditions. This variant is present in population databases (no rsID available, gnomAD 0.0009%). This sequence change creates a premature translational stop signal (p.Asn12Glufs*3) in the PEX2 gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 294 amino acid(s) of the PEX2 protein. |
Baylor Genetics | RCV001210965 | SCV004201466 | likely pathogenic | Peroxisome biogenesis disorder 5A (Zellweger) | 2023-10-11 | criteria provided, single submitter | clinical testing |