ClinVar Miner

Submissions for variant NM_181078.3(IL21R):c.512C>T (p.Pro171Leu)

gnomAD frequency: 0.00001  dbSNP: rs367586016
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001227554 SCV001399915 uncertain significance Cryptosporidiosis-chronic cholangitis-liver disease syndrome 2021-08-30 criteria provided, single submitter clinical testing This sequence change replaces proline with leucine at codon 171 of the IL21R protein (p.Pro171Leu). The proline residue is highly conserved and there is a moderate physicochemical difference between proline and leucine. This variant is present in population databases (rs367586016, ExAC 0.01%). This variant has not been reported in the literature in individuals affected with IL21R-related conditions. 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.
Ambry Genetics RCV002563686 SCV003638406 uncertain significance Inborn genetic diseases 2022-07-26 criteria provided, single submitter clinical testing The c.578C>T (p.P193L) alteration is located in exon 7 (coding exon 6) of the IL21R gene. This alteration results from a C to T substitution at nucleotide position 578, causing the proline (P) at amino acid position 193 to be replaced by a leucine (L). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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