ClinVar Miner

Submissions for variant NM_181078.3(IL21R):c.602G>A (p.Arg201Gln)

gnomAD frequency: 0.00001  dbSNP: rs397514685
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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 RCV000790536 SCV003443511 uncertain significance Cryptosporidiosis-chronic cholangitis-liver disease syndrome 2022-06-22 criteria provided, single submitter clinical testing Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). ClinVar contains an entry for this variant (Variation ID: 638070). This missense change has been observed in individual(s) with clinical features of interleukin 21 receptor deficiency (PMID: 25398835, 33929673). This variant is present in population databases (no rsID available, gnomAD 0.007%). This sequence change replaces arginine, which is basic and polar, with glutamine, which is neutral and polar, at codon 201 of the IL21R protein (p.Arg201Gln). 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.
OMIM RCV000790536 SCV000929868 pathogenic Cryptosporidiosis-chronic cholangitis-liver disease syndrome 2019-07-26 no assertion criteria provided literature only

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