ClinVar Miner

Submissions for variant NM_000287.4(PEX6):c.1549C>T (p.Arg517Trp)

gnomAD frequency: 0.00003  dbSNP: rs754790139
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
Labcorp Genetics (formerly Invitae), Labcorp RCV001348805 SCV001543122 uncertain significance Peroxisome biogenesis disorder 2022-08-19 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with tryptophan, which is neutral and slightly polar, at codon 517 of the PEX6 protein (p.Arg517Trp). This variant is present in population databases (rs754790139, gnomAD 0.007%). This variant has not been reported in the literature in individuals affected with PEX6-related conditions. ClinVar contains an entry for this variant (Variation ID: 1044547). Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C25". The tryptophan amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect 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.
Centogene AG - the Rare Disease Company RCV001810035 SCV002059783 uncertain significance Heimler syndrome 2 2019-06-21 criteria provided, single submitter clinical testing
Natera, Inc. RCV001831146 SCV002077311 uncertain significance Zellweger spectrum disorders 2020-03-13 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.