ClinVar Miner

Submissions for variant NM_181078.3(IL21R):c.1178G>T (p.Ser393Ile)

dbSNP: rs375328425
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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 RCV000793782 SCV000933154 uncertain significance Cryptosporidiosis-chronic cholangitis-liver disease syndrome 2022-02-08 criteria provided, single submitter clinical testing This sequence change replaces serine, which is neutral and polar, with isoleucine, which is neutral and non-polar, at codon 393 of the IL21R protein (p.Ser393Ile). This variant is present in population databases (rs375328425, gnomAD 0.002%). This variant has not been reported in the literature in individuals affected with IL21R-related conditions. ClinVar contains an entry for this variant (Variation ID: 640700). 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 C0"). 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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