ClinVar Miner

Submissions for variant NM_000466.3(PEX1):c.1838_1839dup (p.Lys614fs)

dbSNP: rs1554372561
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 RCV000674942 SCV000800358 likely pathogenic Peroxisome biogenesis disorder 1A (Zellweger) 2018-06-04 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV001784299 SCV002016578 pathogenic not provided 2022-11-10 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001868283 SCV002246449 pathogenic Zellweger spectrum disorders 2024-05-20 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Lys614Valfs*32) 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: 21031596, 26387595, 31831025). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with PEX1-related conditions. ClinVar contains an entry for this variant (Variation ID: 558642). For these reasons, this variant has been classified as Pathogenic.

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.