ClinVar Miner

Submissions for variant NM_002617.4(PEX10):c.22C>T (p.Pro8Ser)

dbSNP: rs781306925
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 1
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002994231 SCV003296318 uncertain significance Peroxisome biogenesis disorder, complementation group 7 2021-08-27 criteria provided, single submitter clinical testing This sequence change replaces proline with serine at codon 8 of the PEX10 protein (p.Pro8Ser). The proline residue is moderately conserved and there is a moderate physicochemical difference between proline and serine. While this variant is present in population databases (rs781306925), the frequency information is unreliable, as metrics indicate poor data quality at this position in the ExAC database. This variant has not been reported in the literature in individuals affected with PEX10-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.

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.