Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Counsyl | RCV000411232 | SCV000487462 | likely pathogenic | Peroxisome biogenesis disorder 1A (Zellweger) | 2015-12-15 | criteria provided, single submitter | clinical testing | |
Counsyl | RCV000409234 | SCV000487463 | likely pathogenic | Peroxisome biogenesis disorder 1B | 2015-12-15 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001383774 | SCV001583040 | pathogenic | Zellweger spectrum disorders | 2021-12-18 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 371694). This variant has not been reported in the literature in individuals affected with PEX1-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Lys359Serfs*7) 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). |