ClinVar Miner

Submissions for variant NM_181078.3(IL21R):c.27G>T (p.Leu9Phe)

gnomAD frequency: 0.00002  dbSNP: rs758665836
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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 RCV001883082 SCV002138547 uncertain significance Cryptosporidiosis-chronic cholangitis-liver disease syndrome 2021-09-24 criteria provided, single submitter clinical testing This sequence change replaces leucine with phenylalanine at codon 9 of the IL21R protein (p.Leu9Phe). The leucine residue is moderately conserved and there is a small physicochemical difference between leucine and phenylalanine. This variant is present in population databases (rs758665836, ExAC 0.002%). This variant has not been reported in the literature in individuals with IL21R-related conditions. 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 phenylalanine 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.

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