ClinVar Miner

Submissions for variant NM_181078.3(IL21R):c.467A>G (p.Tyr156Cys)

gnomAD frequency: 0.00011  dbSNP: rs745372589
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000210668 SCV000262875 uncertain significance Inborn genetic diseases 2015-12-21 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000651170 SCV000773020 uncertain significance Cryptosporidiosis-chronic cholangitis-liver disease syndrome 2022-06-27 criteria provided, single submitter clinical testing This sequence change replaces tyrosine, which is neutral and polar, with cysteine, which is neutral and slightly polar, at codon 156 of the IL21R protein (p.Tyr156Cys). This variant is present in population databases (rs745372589, 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: 225007). Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. 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.
Revvity Omics, Revvity RCV000651170 SCV003813366 uncertain significance Cryptosporidiosis-chronic cholangitis-liver disease syndrome 2020-02-14 criteria provided, single submitter clinical testing

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