ClinVar Miner

Submissions for variant NM_000286.3(PEX12):c.460C>T (p.Arg154Ter)

dbSNP: rs1555549855
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 RCV000666724 SCV000791071 likely pathogenic Peroxisome biogenesis disorder type 3B; Peroxisome biogenesis disorder 3A (Zellweger) 2017-04-24 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004547837 SCV004111403 likely pathogenic PEX12-related disorder 2023-05-25 criteria provided, single submitter clinical testing The PEX12 c.460C>T variant is predicted to result in premature protein termination (p.Arg154*). This variant was reported in an individual with peroxisome biogenesis disorder 3 (Ebberink et al. 2011. PubMed ID: 21031596). This variant has not been reported in a large population database (http://gnomad.broadinstitute.org), indicating this variant is rare. Nonsense variants in PEX12 are expected to be pathogenic. This variant is interpreted as likely pathogenic.
Labcorp Genetics (formerly Invitae), Labcorp RCV003534546 SCV004297756 pathogenic Peroxisome biogenesis disorder 3A (Zellweger) 2023-01-22 criteria provided, single submitter clinical testing This premature translational stop signal has been observed in individual(s) with Zellweger syndrome spectrum (PMID: 21031596). This sequence change creates a premature translational stop signal (p.Arg154*) in the PEX12 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in PEX12 are known to be pathogenic (PMID: 9090384, 9632816, 21031596). This variant is not present in population databases (gnomAD no frequency). ClinVar contains an entry for this variant (Variation ID: 551612). 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.