ClinVar Miner

Submissions for variant NM_000466.3(PEX1):c.2615G>A (p.Arg872Gln)

gnomAD frequency: 0.00007  dbSNP: rs139797041
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
Labcorp Genetics (formerly Invitae), Labcorp RCV002979938 SCV003295864 uncertain significance Zellweger spectrum disorders 2022-09-13 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with glutamine, which is neutral and polar, at codon 872 of the PEX1 protein (p.Arg872Gln). This variant is present in population databases (rs139797041, gnomAD 0.02%). This variant has not been reported in the literature in individuals affected with PEX1-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 tolerated. 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.
PreventionGenetics, part of Exact Sciences RCV004753607 SCV005367307 uncertain significance PEX1-related disorder 2024-08-21 no assertion criteria provided clinical testing The PEX1 c.2615G>A variant is predicted to result in the amino acid substitution p.Arg872Gln. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.016% of alleles in individuals of European (Non-Finnish) descent in gnomAD. 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.