Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV003759626 | SCV004509339 | pathogenic | Zellweger spectrum disorders | 2023-08-07 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. This variant has not been reported in the literature in individuals affected with PEX1-related conditions. This variant is present in population databases (rs267608175, gnomAD 0.0009%). This sequence change creates a premature translational stop signal (p.Trp413*) in the PEX1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in PEX1 are known to be pathogenic (PMID: 21031596, 26387595, 31831025). |