ClinVar Miner

Submissions for variant NM_181078.3(IL21R):c.505G>A (p.Val169Met)

gnomAD frequency: 0.00004  dbSNP: rs142403771
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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 RCV000704128 SCV000833064 uncertain significance Cryptosporidiosis-chronic cholangitis-liver disease syndrome 2021-09-02 criteria provided, single submitter clinical testing This sequence change replaces valine with methionine at codon 169 of the IL21R protein (p.Val169Met). The valine residue is weakly conserved and there is a small physicochemical difference between valine and methionine. This variant is present in population databases (rs142403771, ExAC 0.005%). This variant has not been reported in the literature in individuals affected with IL21R-related conditions. 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. 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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