ClinVar Miner

Submissions for variant NM_000466.3(PEX1):c.611G>A (p.Arg204Lys)

gnomAD frequency: 0.00003  dbSNP: rs369126779
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) RCV000732957 SCV000860959 uncertain significance not provided 2018-04-24 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002535306 SCV003517913 uncertain significance Zellweger spectrum disorders 2022-07-31 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals affected with PEX1-related conditions. This sequence change replaces arginine, which is basic and polar, with lysine, which is basic and polar, at codon 204 of the PEX1 protein (p.Arg204Lys). This variant is present in population databases (rs369126779, gnomAD 0.01%). ClinVar contains an entry for this variant (Variation ID: 596973). 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 PEX1 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.
Breakthrough Genomics, Breakthrough Genomics RCV000732957 SCV005196033 uncertain significance not provided criteria provided, single submitter not provided

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.