ClinVar Miner

Submissions for variant NM_181078.3(IL21R):c.515G>C (p.Arg172Thr)

dbSNP: rs2087443936
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001062213 SCV001226995 uncertain significance Cryptosporidiosis-chronic cholangitis-liver disease syndrome 2021-09-01 criteria provided, single submitter clinical testing This sequence change replaces arginine with threonine at codon 172 of the IL21R protein (p.Arg172Thr). The arginine residue is weakly conserved and there is a moderate physicochemical difference between arginine and threonine. This variant is not present in population databases (ExAC no frequency). 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 (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. 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.

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