ClinVar Miner

Submissions for variant NM_000466.3(PEX1):c.657_660del (p.Ser220fs)

dbSNP: rs786205656
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Department Of Translational Genomics (developmental Genetics Section), King Faisal Specialist Hospital & Research Centre 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).

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.