ClinVar Miner

Submissions for variant NM_181078.3(IL21R):c.1403G>A (p.Arg468Gln)

gnomAD frequency: 0.00003  dbSNP: rs779279193
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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 RCV001876848 SCV002129891 uncertain significance Cryptosporidiosis-chronic cholangitis-liver disease syndrome 2021-06-25 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, but this prediction has not been confirmed by published transcriptional studies. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). This variant has not been reported in the literature in individuals with IL21R-related conditions. This variant is present in population databases (rs779279193, ExAC 0.02%). This sequence change replaces arginine with glutamine at codon 468 of the IL21R protein (p.Arg468Gln). The arginine residue is weakly conserved and there is a small physicochemical difference between arginine and glutamine.

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