ClinVar Miner

Submissions for variant NM_000286.3(PEX12):c.644del (p.Pro215fs)

dbSNP: rs1199283977
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
Counsyl RCV000672949 SCV000798108 likely pathogenic Peroxisome biogenesis disorder type 3B; Peroxisome biogenesis disorder 3A (Zellweger) 2018-02-26 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV003653257 SCV004374558 pathogenic Peroxisome biogenesis disorder 3A (Zellweger) 2023-05-08 criteria provided, single submitter clinical testing ClinVar contains an entry for this variant (Variation ID: 556886). For these reasons, this variant has been classified as Pathogenic. This variant disrupts a region of the PEX12 protein in which other variant(s) (p.Gln349del) have been determined to be pathogenic (PMID: 15542397, 21031596; Invitae). This suggests that this is a clinically significant region of the protein, and that variants that disrupt it are likely to be disease-causing. This variant has not been reported in the literature in individuals affected with PEX12-related conditions. This variant is present in population databases (no rsID available, gnomAD 0.1%). This sequence change creates a premature translational stop signal (p.Pro215Glnfs*6) in the PEX12 gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 145 amino acid(s) of the PEX12 protein.

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.