ClinVar Miner

Submissions for variant NM_000287.4(PEX6):c.2663G>C (p.Arg888Pro)

dbSNP: rs267608247
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 4
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Centre for Mendelian Genomics, University Medical Centre Ljubljana RCV001197230 SCV001367867 likely pathogenic Peroxisome biogenesis disorder 4A (Zellweger) 2016-01-01 criteria provided, single submitter clinical testing This variant was classified as: Likely pathogenic. The following ACMG criteria were applied in classifying this variant: PM3,PM2,PP3,PP5.
Baylor Genetics RCV003473734 SCV004201598 likely pathogenic Heimler syndrome 2 2022-11-17 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV004526812 SCV005039247 uncertain significance not specified 2024-03-22 criteria provided, single submitter clinical testing Variant summary: PEX6 c.2663G>C (p.Arg888Pro) results in a non-conservative amino acid change in the encoded protein sequence. Five of five in-silico tools predict a damaging effect of the variant on protein function. The variant was absent in 251478 control chromosomes. The available data on variant occurrences in the general population are insufficient to allow any conclusion about variant significance. c.2663G>C has been reported in the literature in at-least one individual affected with Zellweger Syndrome (example: Ebberink_2010). These data do not allow any conclusion about variant significance. To our knowledge, no experimental evidence demonstrating an impact on protein function has been reported. The following publication has been ascertained in the context of this evaluation (PMID: 19877282). ClinVar contains an entry for this variant (Variation ID: 931051). Based on the evidence outlined above, the variant was classified as uncertain significance.
Fulgent Genetics, Fulgent Genetics RCV005040006 SCV005668728 likely pathogenic Peroxisome biogenesis disorder 4A (Zellweger); Peroxisome biogenesis disorder 4B; Heimler syndrome 2 2024-03-29 criteria provided, single submitter 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.