ClinVar Miner

Submissions for variant NM_181078.3(IL21R):c.139C>T (p.Leu47Phe)

gnomAD frequency: 0.00033  dbSNP: rs140808008
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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 RCV000819463 SCV000960124 uncertain significance Cryptosporidiosis-chronic cholangitis-liver disease syndrome 2022-08-23 criteria provided, single submitter clinical testing This sequence change replaces leucine, which is neutral and non-polar, with phenylalanine, which is neutral and non-polar, at codon 47 of the IL21R protein (p.Leu47Phe). This variant is present in population databases (rs140808008, gnomAD 0.09%). This variant has not been reported in the literature in individuals affected with IL21R-related conditions. ClinVar contains an entry for this variant (Variation ID: 661937). 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: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). 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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