ClinVar Miner

Submissions for variant NM_181078.3(IL21R):c.433C>A (p.Pro145Thr)

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 RCV003092224 SCV003476961 uncertain significance Cryptosporidiosis-chronic cholangitis-liver disease syndrome 2022-07-06 criteria provided, single submitter clinical testing Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). This variant has not been reported in the literature in individuals affected with IL21R-related conditions. This variant is present in population databases (rs749503528, gnomAD 0.03%). This sequence change replaces proline, which is neutral and non-polar, with threonine, which is neutral and polar, at codon 145 of the IL21R protein (p.Pro145Thr). 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.