ClinVar Miner

Submissions for variant NM_181078.3(IL21R):c.1610C>T (p.Ala537Val)

gnomAD frequency: 0.00001  dbSNP: rs530838561
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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 RCV002021883 SCV002235419 uncertain significance Cryptosporidiosis-chronic cholangitis-liver disease syndrome 2023-11-28 criteria provided, single submitter clinical testing This sequence change replaces alanine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 537 of the IL21R protein (p.Ala537Val). This variant is present in population databases (rs530838561, gnomAD 0.006%). 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: 1450976). An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests 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.

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