ClinVar Miner

Submissions for variant NM_181078.3(IL21R):c.833T>G (p.Met278Arg)

dbSNP: rs369667782
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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 RCV001984989 SCV002219236 uncertain significance Cryptosporidiosis-chronic cholangitis-liver disease syndrome 2021-09-21 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 sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. 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 present in population databases (rs369667782, ExAC 0.002%). This sequence change replaces methionine with arginine at codon 278 of the IL21R protein (p.Met278Arg). The methionine residue is weakly conserved and there is a moderate physicochemical difference between methionine and arginine.

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