Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001211999 | SCV001383569 | pathogenic | Zellweger spectrum disorders | 2019-05-30 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Phe939*) in the PEX1 gene. It is expected to result in an absent or disrupted protein product. For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in PEX1 are known to be pathogenic (PMID: 9398847, 16086329, 16141001, 21031596). This variant has not been reported in the literature in individuals with PEX1-related conditions. This variant is not present in population databases (ExAC no frequency). |