ClinVar Miner

Submissions for variant NM_181078.3(IL21R):c.209C>T (p.Ser70Leu)

gnomAD frequency: 0.00004  dbSNP: rs780430063
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001061479 SCV001226223 uncertain significance Cryptosporidiosis-chronic cholangitis-liver disease syndrome 2022-05-04 criteria provided, single submitter clinical testing This sequence change replaces serine, which is neutral and polar, with leucine, which is neutral and non-polar, at codon 70 of the IL21R protein (p.Ser70Leu). This variant is present in population databases (rs780430063, gnomAD 0.01%). 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: 856086). 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.
Baylor Genetics RCV001061479 SCV001524732 uncertain significance Cryptosporidiosis-chronic cholangitis-liver disease syndrome 2020-06-03 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
CeGaT Center for Human Genetics Tuebingen RCV001531849 SCV001747154 uncertain significance not provided 2024-08-01 criteria provided, single submitter clinical testing IL21R: PM2, BP4
Ambry Genetics RCV003363090 SCV004052971 uncertain significance Inborn genetic diseases 2023-06-26 criteria provided, single submitter clinical testing The c.275C>T (p.S92L) alteration is located in exon 5 (coding exon 4) of the IL21R gene. This alteration results from a C to T substitution at nucleotide position 275, causing the serine (S) at amino acid position 92 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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