ClinVar Miner

Submissions for variant NM_181078.3(IL21R):c.598G>A (p.Val200Met)

dbSNP: rs759494920
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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 RCV001298914 SCV001487985 uncertain significance Cryptosporidiosis-chronic cholangitis-liver disease syndrome 2020-03-09 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 output the following: SIFT: "Deleterious"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C15". The methionine amino acid residue is found in multiple mammalian species, suggesting that this missense change does not adversely affect protein function. 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 (rs759494920, ExAC 0.008%). This sequence change replaces valine with methionine at codon 200 of the IL21R protein (p.Val200Met). The valine residue is highly conserved and there is a small physicochemical difference between valine and methionine.

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