Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001388002 | SCV001588784 | pathogenic | Peroxisome biogenesis disorder 9B | 2020-08-20 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Thr122Profs*59) in the PEX7 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 PEX7 are known to be pathogenic (PMID: 12325024, 12522768, 20301447). This variant has not been reported in the literature in individuals with PEX7-related conditions. This variant is not present in population databases (ExAC no frequency). |