ClinVar Miner

Submissions for variant NM_181078.3(IL21R):c.260A>G (p.His87Arg)

gnomAD frequency: 0.00001  dbSNP: rs1439154337
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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 RCV001062331 SCV001227126 uncertain significance Cryptosporidiosis-chronic cholangitis-liver disease syndrome 2021-08-27 criteria provided, single submitter clinical testing This sequence change replaces histidine with arginine at codon 87 of the IL21R protein (p.His87Arg). The histidine residue is weakly conserved and there is a small physicochemical difference between histidine and arginine. 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 output the following: SIFT: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The arginine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect 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.
PreventionGenetics, part of Exact Sciences RCV003405277 SCV004111324 uncertain significance IL21R-related disorder 2023-02-23 criteria provided, single submitter clinical testing The IL21R c.260A>G variant is predicted to result in the amino acid substitution p.His87Arg. To our knowledge, this variant has not been reported in the literature or in a large population database (http://gnomad.broadinstitute.org), indicating this variant is rare. At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

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