ClinVar Miner

Submissions for variant NM_181078.3(IL21R):c.542G>C (p.Arg181Thr)

gnomAD frequency: 0.00003  dbSNP: rs758462314
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
Labcorp Genetics (formerly Invitae), Labcorp RCV001900496 SCV002141187 uncertain significance Cryptosporidiosis-chronic cholangitis-liver disease syndrome 2021-08-22 criteria provided, single submitter clinical testing This sequence change replaces arginine with threonine at codon 181 of the IL21R protein (p.Arg181Thr). The arginine residue is highly conserved and there is a moderate physicochemical difference between arginine and threonine. This variant is present in population databases (rs758462314, ExAC 0.03%). This variant has not been reported in the literature in individuals affected with IL21R-related conditions. 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: "Benign"; Align-GVGD: "Class C25"). 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.
Ambry Genetics RCV002552122 SCV003689272 uncertain significance Inborn genetic diseases 2022-08-02 criteria provided, single submitter clinical testing The c.608G>C (p.R203T) alteration is located in exon 7 (coding exon 6) of the IL21R gene. This alteration results from a G to C substitution at nucleotide position 608, causing the arginine (R) at amino acid position 203 to be replaced by a threonine (T). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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.