ClinVar Miner

Submissions for variant NM_181078.3(IL21R):c.1351C>T (p.Pro451Ser)

dbSNP: rs757335123
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 RCV001349433 SCV001543778 uncertain significance Cryptosporidiosis-chronic cholangitis-liver disease syndrome 2020-03-04 criteria provided, single submitter clinical testing 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. 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, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. This variant has not been reported in the literature in individuals with IL21R-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change replaces proline with serine at codon 451 of the IL21R protein (p.Pro451Ser). The proline residue is weakly conserved and there is a moderate physicochemical difference between proline and serine.

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.