ClinVar Miner

Submissions for variant NM_181078.3(IL21R):c.581C>T (p.Ser194Leu)

gnomAD frequency: 0.00001  dbSNP: rs374130131
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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 RCV001975872 SCV002255356 uncertain significance Cryptosporidiosis-chronic cholangitis-liver disease syndrome 2023-12-06 criteria provided, single submitter clinical testing This sequence change replaces serine, which is neutral and polar, with leucine, which is neutral and non-polar, at codon 194 of the IL21R protein (p.Ser194Leu). This variant is present in population databases (rs374130131, gnomAD 0.01%). 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: 1472172). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is expected to disrupt IL21R protein function with a positive predictive value of 80%. 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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