ClinVar Miner

Submissions for variant NM_000278.5(PAX2):c.263C>T (p.Pro88Leu)

dbSNP: rs1845410479
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
Johns Hopkins Genomics, Johns Hopkins University RCV001804228 SCV002051794 uncertain significance Focal segmental glomerulosclerosis 7 2021-10-22 criteria provided, single submitter clinical testing PAX2 c.263C>T is absent from a large population dataset and has not been reported in ClinVar nor the literature, to our knowledge. Three bioinformatic tools queried predict that this substitution would be damaging and the proline residue at this position is evolutionarily conserved across all species assessed. We consider the clinical significance of PAX2 c.263C>T to be uncertain at this time.

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.