ClinVar Miner

Submissions for variant NM_181078.3(IL21R):c.734T>C (p.Val245Ala)

gnomAD frequency: 0.00001  dbSNP: rs138134818
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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 RCV001945870 SCV002204027 uncertain significance Cryptosporidiosis-chronic cholangitis-liver disease syndrome 2021-10-11 criteria provided, single submitter clinical testing This variant is present in population databases (rs138134818, ExAC 0.02%). 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 are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C25"). This variant has not been reported in the literature in individuals affected with IL21R-related conditions. This sequence change replaces valine with alanine at codon 245 of the IL21R protein (p.Val245Ala). The valine residue is moderately conserved and there is a small physicochemical difference between valine and alanine.

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