ClinVar Miner

Submissions for variant NM_181078.3(IL21R):c.433C>T (p.Pro145Ser)

dbSNP: rs749503528
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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 RCV001225177 SCV001397417 uncertain significance Cryptosporidiosis-chronic cholangitis-liver disease syndrome 2019-05-23 criteria provided, single submitter clinical testing 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 serine amino acid residue is found in multiple mammalian species, suggesting that this missense change does not adversely affect protein function. These predictions have not been confirmed by published functional studies and their clinical significance is uncertain. 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. This variant has not been reported in the literature in individuals with IL21R-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change replaces proline with serine at codon 145 of the IL21R protein (p.Pro145Ser). The proline residue is moderately conserved and there is a moderate physicochemical difference between proline and serine.

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