ClinVar Miner

Submissions for variant NM_000287.4(PEX6):c.2440C>T (p.Arg814Ter) (rs267608241)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 5
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000667668 SCV000792154 pathogenic Peroxisome biogenesis disorder 4a (zellweger); Peroxisome biogenesis disorder 4B 2017-06-14 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000657597 SCV000225774 pathogenic not provided 2015-04-13 criteria provided, single submitter clinical testing
Fulgent Genetics,Fulgent Genetics RCV000763145 SCV000893718 pathogenic Peroxisome biogenesis disorder 4a (zellweger); Peroxisome biogenesis disorder 4B; Heimler syndrome 2 2018-10-31 criteria provided, single submitter clinical testing
GeneDx RCV000657597 SCV000779337 likely pathogenic not provided 2018-05-23 criteria provided, single submitter clinical testing The R814X variant in the PEX6 gene has been reported previously in the homozygous and compound heterozygous state, in unrelated individuals, in association with Zellweger syndrome spectrum (Ebberink et al., 2010). This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The R814X variant is observed in 5/246254 (0.00002%) alleles in large population cohorts (Lek et al., 2016). We interpret R814X as a likely pathogenic variant.
Invitae RCV000802432 SCV000942264 pathogenic Peroxisome biogenesis disorders, Zellweger syndrome spectrum 2018-11-20 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg814*) in the PEX6 gene. It is expected to result in an absent or disrupted protein product. This variant is present in population databases (rs267608241, ExAC 0.01%). This variant has been observed to be homozygous in an individual affected with Zellweger Syndrome Spectrum (PMID: 19877282). ClinVar contains an entry for this variant (Variation ID: 194165). Loss-of-function variants in PEX6 are known to be pathogenic (PMID: 8670792, 19877282, 21031596). 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.