ClinVar Miner

Submissions for variant NM_181078.3(IL21R):c.1543C>A (p.Pro515Thr)

gnomAD frequency: 0.00001  dbSNP: rs762518345
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 RCV000795878 SCV000935357 uncertain significance Cryptosporidiosis-chronic cholangitis-liver disease syndrome 2023-08-17 criteria provided, single submitter clinical testing This sequence change replaces proline, which is neutral and non-polar, with threonine, which is neutral and polar, at codon 515 of the IL21R protein (p.Pro515Thr). This variant is present in population databases (rs762518345, gnomAD 0.008%). This variant has not been reported in the literature in individuals affected with IL21R-related conditions. ClinVar contains an entry for this variant (Variation ID: 642414). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is expected to disrupt IL21R protein function. 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 RCV004027544 SCV004887645 uncertain significance Inborn genetic diseases 2023-11-09 criteria provided, single submitter clinical testing The c.1609C>A (p.P537T) alteration is located in exon 10 (coding exon 9) of the IL21R gene. This alteration results from a C to A substitution at nucleotide position 1609, causing the proline (P) at amino acid position 537 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.