ClinVar Miner

Submissions for variant NM_181078.3(IL21R):c.1325T>G (p.Leu442Arg)

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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 RCV003738497 SCV004373388 uncertain significance Cryptosporidiosis-chronic cholangitis-liver disease syndrome 2023-03-11 criteria provided, single submitter clinical testing This sequence change replaces leucine, which is neutral and non-polar, with arginine, which is basic and polar, at codon 442 of the IL21R protein (p.Leu442Arg). This variant is not present in population databases (gnomAD 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. 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 not expected to disrupt IL21R protein function. This variant has not been reported in the literature in individuals affected with IL21R-related conditions.

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