Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Counsyl | RCV000410544 | SCV000487527 | likely pathogenic | Peroxisome biogenesis disorder 1A (Zellweger) | 2016-02-29 | criteria provided, single submitter | clinical testing | |
Counsyl | RCV000411204 | SCV000487528 | likely pathogenic | Peroxisome biogenesis disorder 1B | 2016-02-29 | criteria provided, single submitter | clinical testing | |
Invitae | RCV002230733 | SCV000948850 | pathogenic | Zellweger spectrum disorders | 2018-08-04 | criteria provided, single submitter | clinical testing | 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 disease. ClinVar contains an entry for this variant (Variation ID: 371713). This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Arg636Serfs*9) in the PEX1 gene. It is expected to result in an absent or disrupted protein product. |