ClinVar Miner

Submissions for variant NM_000466.3(PEX1):c.1891del (p.Ala631fs)

dbSNP: rs2075434480
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
Labcorp Genetics (formerly Invitae), Labcorp RCV001956445 SCV002243677 pathogenic Zellweger spectrum disorders 2024-07-10 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Ala631Leufs*14) 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 premature translational stop signal has been observed in individual(s) with Zellweger syndrome spectrum (PMID: 21031596). ClinVar contains an entry for this variant (Variation ID: 1458579). For these reasons, this variant has been classified as Pathogenic.
Revvity Omics, Revvity RCV003130639 SCV003811298 likely pathogenic not provided 2022-10-12 criteria provided, single submitter clinical testing
Baylor Genetics RCV003475247 SCV004203380 pathogenic Heimler syndrome 1 2022-12-01 criteria provided, single submitter clinical testing

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.