ClinVar Miner

Submissions for variant NM_181078.3(IL21R):c.20C>G (p.Ala7Gly)

dbSNP: rs559469718
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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 RCV001308013 SCV001497446 uncertain significance Cryptosporidiosis-chronic cholangitis-liver disease syndrome 2020-05-03 criteria provided, single submitter clinical testing 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. 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 tolerated, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. This variant has not been reported in the literature in individuals with IL21R-related conditions. This variant is present in population databases (rs559469718, ExAC 0.009%). This sequence change replaces alanine with glycine at codon 7 of the IL21R protein (p.Ala7Gly). The alanine residue is moderately conserved and there is a small physicochemical difference between alanine and glycine.
Ambry Genetics RCV004034153 SCV004887651 uncertain significance Inborn genetic diseases 2023-12-08 criteria provided, single submitter clinical testing The c.86C>G (p.A29G) alteration is located in exon 3 (coding exon 2) of the IL21R gene. This alteration results from a C to G substitution at nucleotide position 86, causing the alanine (A) at amino acid position 29 to be replaced by a glycine (G). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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