Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Counsyl | RCV000410653 | SCV000487427 | likely pathogenic | Peroxisome biogenesis disorder 1A (Zellweger) | 2015-11-19 | criteria provided, single submitter | clinical testing | |
Counsyl | RCV000411721 | SCV000487428 | likely pathogenic | Peroxisome biogenesis disorder 1B | 2015-11-19 | criteria provided, single submitter | clinical testing | |
Invitae | RCV002230732 | SCV000942109 | pathogenic | Zellweger spectrum disorders | 2023-06-14 | criteria provided, single submitter | clinical testing | This variant is not present in population databases (gnomAD no frequency). This sequence change affects the initiator methionine of the PEX1 mRNA. The next in-frame methionine is located at codon 209. Disruption of the initiator codon has been observed in individuals with Zellweger syndrome spectrum disorder (PMID: 21031596). For these reasons, this variant has been classified as Pathogenic. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. ClinVar contains an entry for this variant (Variation ID: 371688). |