Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Counsyl | RCV000412085 | SCV000487434 | likely pathogenic | Peroxisome biogenesis disorder 1A (Zellweger) | 2015-11-30 | criteria provided, single submitter | clinical testing | |
Counsyl | RCV000409648 | SCV000487435 | likely pathogenic | Peroxisome biogenesis disorder 1B | 2015-11-30 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001865275 | SCV002235601 | pathogenic | Zellweger spectrum disorders | 2021-01-08 | 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 with PEX1-related conditions. ClinVar contains an entry for this variant (Variation ID: 371689). This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Glu508Glyfs*6) 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: 9398847, 16086329, 16141001, 21031596, 26387595, 31831025). |