ClinVar Miner

Submissions for variant NM_181078.3(IL21R):c.1040C>T (p.Pro347Leu)

dbSNP: rs1596600087
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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 RCV000808542 SCV000948652 uncertain significance Cryptosporidiosis-chronic cholangitis-liver disease syndrome 2018-10-14 criteria provided, single submitter clinical testing This sequence change replaces proline with leucine at codon 347 of the IL21R protein (p.Pro347Leu). The proline residue is moderately conserved and there is a moderate physicochemical difference between proline and leucine. This variant is not present in population databases (ExAC no frequency). 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 output the following: SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The leucine 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. This variant has not been reported in the literature in individuals with IL21R-related disease.

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