ClinVar Miner

Submissions for variant NM_001351132.2(PEX5):c.1439G>A (p.Arg480Gln)

gnomAD frequency: 0.00011  dbSNP: rs759523235
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
Eurofins Ntd Llc (ga) RCV000732963 SCV000860965 uncertain significance not provided 2018-04-25 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001050123 SCV001214216 uncertain significance Peroxisome biogenesis disorder 2B 2022-11-01 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 480 of the PEX5 protein (p.Arg480Gln). This variant is present in population databases (rs759523235, gnomAD 0.1%). This variant has not been reported in the literature in individuals affected with PEX5-related conditions. ClinVar contains an entry for this variant (Variation ID: 596979). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt PEX5 protein function. 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 RCV004748946 SCV005360604 uncertain significance PEX5-related disorder 2024-09-25 no assertion criteria provided clinical testing The PEX5 c.1439G>A variant is predicted to result in the amino acid substitution p.Arg480Gln. This variant was reported as a variant of uncertain significance in an individual with inherited retinal dystrophy (Table S12, Diñeiro et al 2020. PubMed ID: 32483926). This variant is reported in 0.099% of alleles in individuals of Latino 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.