ClinVar Miner

Submissions for variant NM_000318.3(PEX2):c.461T>C (p.Phe154Ser)

gnomAD frequency: 0.00001  dbSNP: rs755169713
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
Invitae RCV001303379 SCV001492621 uncertain significance Peroxisome biogenesis disorder 5A (Zellweger) 2021-08-24 criteria provided, single submitter clinical testing This sequence change replaces phenylalanine with serine at codon 154 of the PEX2 protein (p.Phe154Ser). The phenylalanine residue is highly conserved and there is a large physicochemical difference between phenylalanine and serine. This variant is present in population databases (rs755169713, ExAC 0.02%). This variant has not been reported in the literature in individuals affected with PEX2-related conditions. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive. 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.
Natera, Inc. RCV001830196 SCV002083368 uncertain significance Zellweger spectrum disorders 2020-09-27 no assertion criteria provided 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.