Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001227495 | SCV001399856 | pathogenic | Peroxisome biogenesis disorder 7A (Zellweger); Peroxisome biogenesis disorder 7B | 2023-12-11 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Val120Serfs*61) in the PEX26 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in PEX26 are known to be pathogenic (PMID: 12851857, 21031596). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with PEX26-related conditions. ClinVar contains an entry for this variant (Variation ID: 954945). For these reasons, this variant has been classified as Pathogenic. |
Baylor Genetics | RCV003473790 | SCV004201506 | likely pathogenic | Peroxisome biogenesis disorder 7A (Zellweger) | 2023-05-29 | criteria provided, single submitter | clinical testing |