ClinVar Miner

Submissions for variant NM_181078.3(IL21R):c.585C>G (p.Ser195Arg)

dbSNP: rs773814550
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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 RCV001061495 SCV001226239 uncertain significance Cryptosporidiosis-chronic cholangitis-liver disease syndrome 2019-12-30 criteria provided, single submitter clinical testing 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: "Tolerated"; PolyPhen-2: "Possibly Damaging"; 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. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site, but this prediction has not been confirmed by published transcriptional studies. This variant has not been reported in the literature in individuals with IL21R-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change replaces serine with arginine at codon 195 of the IL21R protein (p.Ser195Arg). The serine residue is moderately conserved and there is a moderate physicochemical difference between serine and arginine.

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