ClinVar Miner

Submissions for variant NM_181078.3(IL21R):c.1364A>T (p.Asp455Val)

gnomAD frequency: 0.00001  dbSNP: rs370088512
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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 RCV001341356 SCV001535225 uncertain significance Cryptosporidiosis-chronic cholangitis-liver disease syndrome 2020-09-20 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. This sequence change replaces aspartic acid with valine at codon 455 of the IL21R protein (p.Asp455Val). The aspartic acid residue is weakly conserved and there is a large physicochemical difference between aspartic acid and valine. This variant is present in population databases (rs370088512, ExAC 0.008%). This variant has not been reported in the literature in individuals 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, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain.

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