ClinVar Miner

Submissions for variant NM_181078.3(IL21R):c.1402C>T (p.Arg468Trp)

gnomAD frequency: 0.00001  dbSNP: rs776008613
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001210657 SCV001382154 uncertain significance Cryptosporidiosis-chronic cholangitis-liver disease syndrome 2022-10-13 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with tryptophan, which is neutral and slightly polar, at codon 468 of the IL21R protein (p.Arg468Trp). This variant is present in population databases (rs776008613, 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: 940966). 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. 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.
Ambry Genetics RCV004033799 SCV004887644 uncertain significance Inborn genetic diseases 2023-12-12 criteria provided, single submitter clinical testing The c.1468C>T (p.R490W) alteration is located in exon 10 (coding exon 9) of the IL21R gene. This alteration results from a C to T substitution at nucleotide position 1468, causing the arginine (R) at amino acid position 490 to be replaced by a tryptophan (W). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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