Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Department Of Translational Genomics |
RCV000171530 | SCV000221729 | likely pathogenic | not provided | criteria provided, single submitter | research | ||
Invitae | RCV001852071 | SCV002246546 | pathogenic | Zellweger spectrum disorders | 2020-11-26 | 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: 191337). This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Ser220Ilefs*22) 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). |