ClinVar Miner

Submissions for variant NM_181078.3(IL21R):c.974C>T (p.Pro325Leu)

gnomAD frequency: 0.00001  dbSNP: rs569320047
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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 RCV001974410 SCV002262171 uncertain significance Cryptosporidiosis-chronic cholangitis-liver disease syndrome 2022-08-22 criteria provided, single submitter clinical testing Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The leucine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. 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. ClinVar contains an entry for this variant (Variation ID: 1478917). This variant has not been reported in the literature in individuals affected with IL21R-related conditions. This variant is present in population databases (rs569320047, gnomAD 0.04%). This sequence change replaces proline, which is neutral and non-polar, with leucine, which is neutral and non-polar, at codon 325 of the IL21R protein (p.Pro325Leu).
Neuberg Centre For Genomic Medicine, NCGM RCV001974410 SCV004047945 uncertain significance Cryptosporidiosis-chronic cholangitis-liver disease syndrome criteria provided, single submitter clinical testing The missense variant c.974C>T (p.Pro325Leu) in IL21R gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. This variant has been reported to the ClinVar database as Uncertain Significance. The p.Pro325Leu variant is reported with allele frequency of 0.006% in gnomAD exomes and novel in 1000 Genomes. The amino acid Pro at position 325 is changed to a Leu changing protein sequence and it might alter its composition and physico-chemical properties. For these reasons, this variant has been classified as Uncertain Significance .

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