ClinVar Miner

Submissions for variant NM_001127649.3(PEX26):c.895dup (p.Tyr299fs)

gnomAD frequency: 0.00036  dbSNP: rs759821636
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
Eurofins Ntd Llc (ga) RCV000316448 SCV000335786 uncertain significance not provided 2015-10-12 criteria provided, single submitter clinical testing
Invitae RCV001063738 SCV001228598 uncertain significance Peroxisome biogenesis disorder 7A (Zellweger); Peroxisome biogenesis disorder 7B 2022-10-14 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Tyr299Leufs*7) in the PEX26 gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 7 amino acid(s) of the PEX26 protein. This variant is present in population databases (rs759821636, gnomAD 0.1%). This variant has not been reported in the literature in individuals affected with PEX26-related conditions. ClinVar contains an entry for this variant (Variation ID: 283588). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Mayo Clinic Laboratories, Mayo Clinic RCV000316448 SCV001713081 uncertain significance not provided 2021-02-04 criteria provided, single submitter clinical testing
Preventiongenetics, part of Exact Sciences RCV003417890 SCV004116621 uncertain significance PEX26-related condition 2023-07-31 criteria provided, single submitter clinical testing The PEX26 c.895dupT variant is predicted to result in a frameshift and premature protein termination (p.Tyr299Leufs*7). This variant is in the last exon and is predicted to disrupt the last seven amino acids, and is not predicted to undergo nonsense mediated decay. To our knowledge, this variant has not been reported in the literature and no other premature protein truncating variants have been reported downstream of this variant. This variant is reported in 0.14% of alleles in individuals of African descent in gnomAD (http://gnomad.broadinstitute.org/variant/22-18570817-C-CT). At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

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.