Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001206563 | SCV001377876 | pathogenic | Zellweger spectrum disorders | 2023-03-09 | 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: 937534). This premature translational stop signal has been observed in individual(s) with Zellweger spectrum disorder (PMID: 28857144). This variant is present in population databases (no rsID available, gnomAD 0.002%). This sequence change creates a premature translational stop signal (p.Arg827*) 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). |
Natera, |
RCV001206563 | SCV002076860 | pathogenic | Zellweger spectrum disorders | 2021-06-25 | no assertion criteria provided | clinical testing |