ClinVar Miner

Submissions for variant NM_000288.4(PEX7):c.490T>C (p.Ser164Pro)

dbSNP: rs62653607
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000667040 SCV000791430 uncertain significance Rhizomelic chondrodysplasia punctata type 1 2017-05-10 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV003387904 SCV004099544 uncertain significance not specified 2023-09-06 criteria provided, single submitter clinical testing Variant summary: PEX7 c.490T>C (p.Ser164Pro) 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 251256 control chromosomes. c.490T>C has been reported in the literature in individuals affected with Rhizomelic Chondrodysplasia Punctata Type 1 (Braverman_2002). These data indicate that the variant may be associated with disease. To our knowledge, no experimental evidence demonstrating an impact on protein function has been reported. The following publication have been ascertained in the context of this evaluation (PMID: 12325024). One submitter has cited clinical-significance assessments for this variant to ClinVar after 2014 and has classified the variant as uncertain significance. Based on the evidence outlined above, the variant was classified as VUS-possibly pathogenic.

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.