ClinVar Miner

Submissions for variant NM_181078.3(IL21R):c.934T>C (p.Ser312Pro)

dbSNP: rs1596599840
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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 RCV001218093 SCV001389961 uncertain significance Cryptosporidiosis-chronic cholangitis-liver disease syndrome 2019-07-26 criteria provided, single submitter clinical testing This sequence change replaces serine with proline at codon 312 of the IL21R protein (p.Ser312Pro). The serine residue is moderately conserved and there is a moderate physicochemical difference between serine and proline. This variant is not present in population databases (ExAC no frequency). 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 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"). 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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