ClinVar Miner

Submissions for variant NM_000286.3(PEX12):c.1009C>T (p.Gln337Ter)

gnomAD frequency: 0.00001  dbSNP: rs760739894
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 4
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000520537 SCV000620167 likely pathogenic not provided 2024-05-20 criteria provided, single submitter clinical testing Nonsense variant predicted to result in protein truncation, as the last 23 amino acids are lost; Not observed at significant frequency in large population cohorts (gnomAD); Has not been previously published as pathogenic or benign to our knowledge
Labcorp Genetics (formerly Invitae), Labcorp RCV001378080 SCV001575568 pathogenic Peroxisome biogenesis disorder 3A (Zellweger) 2023-12-12 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gln337*) in the PEX12 gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 23 amino acid(s) of the PEX12 protein. 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 PEX12-related conditions. ClinVar contains an entry for this variant (Variation ID: 451464). 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. For these reasons, this variant has been classified as Pathogenic.
Baylor Genetics RCV001378080 SCV004201441 likely pathogenic Peroxisome biogenesis disorder 3A (Zellweger) 2023-07-20 criteria provided, single submitter clinical testing
Counsyl RCV000674819 SCV000800220 uncertain significance Peroxisome biogenesis disorder type 3B; Peroxisome biogenesis disorder 3A (Zellweger) 2018-05-30 flagged submission 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.