ClinVar Miner

Submissions for variant NM_002617.4(PEX10):c.266C>T (p.Ser89Leu)

gnomAD frequency: 0.00001  dbSNP: rs769847524
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) RCV000730185 SCV000857904 uncertain significance not provided 2017-11-07 criteria provided, single submitter clinical testing
Invitae RCV001048999 SCV001213031 uncertain significance Peroxisome biogenesis disorder, complementation group 7 2022-06-13 criteria provided, single submitter clinical testing This sequence change replaces serine, which is neutral and polar, with leucine, which is neutral and non-polar, at codon 89 of the PEX10 protein (p.Ser89Leu). This variant is present in population databases (rs769847524, gnomAD 0.002%). This variant has not been reported in the literature in individuals affected with PEX10-related conditions. ClinVar contains an entry for this variant (Variation ID: 594806). Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The leucine 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.
Natera, Inc. RCV001280061 SCV001467208 uncertain significance Zellweger spectrum disorders 2020-08-13 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.