ClinVar Miner

Submissions for variant NM_181078.3(IL21R):c.1075G>A (p.Gly359Arg)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002597127 SCV002947130 uncertain significance Cryptosporidiosis-chronic cholangitis-liver disease syndrome 2022-06-19 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. This variant has not been reported in the literature in individuals affected with IL21R-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces glycine, which is neutral and non-polar, with arginine, which is basic and polar, at codon 359 of the IL21R protein (p.Gly359Arg).
CeGaT Center for Human Genetics Tuebingen RCV003409882 SCV004143359 uncertain significance not provided 2023-02-01 criteria provided, single submitter clinical testing IL21R: PM2, BP4

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