ClinVar Miner

Submissions for variant NM_000466.3(PEX1):c.1908del (p.Arg636fs)

dbSNP: rs1057517478
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 3
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000410544 SCV000487527 likely pathogenic Peroxisome biogenesis disorder 1A (Zellweger) 2016-02-29 criteria provided, single submitter clinical testing
Counsyl RCV000411204 SCV000487528 likely pathogenic Peroxisome biogenesis disorder 1B 2016-02-29 criteria provided, single submitter clinical testing
Invitae RCV002230733 SCV000948850 pathogenic Zellweger spectrum disorders 2018-08-04 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in PEX1 are known to be pathogenic (PMID: 9398847, 16086329, 16141001, 21031596). This variant has not been reported in the literature in individuals with PEX1-related disease. ClinVar contains an entry for this variant (Variation ID: 371713). This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Arg636Serfs*9) in the PEX1 gene. It is expected to result in an absent or disrupted protein product.

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.