ClinVar Miner

Submissions for variant NM_002617.4(PEX10):c.26dup (p.Glu10fs)

dbSNP: rs1553232917
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
Invitae RCV001962951 SCV002228207 pathogenic Peroxisome biogenesis disorder, complementation group 7 2023-10-22 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Glu10Glyfs*41) in the PEX10 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in PEX10 are known to be pathogenic (PMID: 9683594, 10862081, 21031596). The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database. This variant has not been reported in the literature in individuals affected with PEX10-related conditions. ClinVar contains an entry for this variant (Variation ID: 1455143). For these reasons, this variant has been classified as Pathogenic.
Baylor Genetics RCV004571723 SCV005055241 pathogenic Peroxisome biogenesis disorder 6A (Zellweger) 2024-01-25 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.