Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV000815581 | SCV000956042 | uncertain significance | Cryptosporidiosis-chronic cholangitis-liver disease syndrome | 2022-06-22 | criteria provided, single submitter | clinical testing | This sequence change replaces glycine, which is neutral and non-polar, with alanine, which is neutral and non-polar, at codon 439 of the IL21R protein (p.Gly439Ala). This variant is present in population databases (rs199542730, gnomAD 0.1%). 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: 658708). 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. |
Ambry Genetics | RCV004028858 | SCV004887643 | uncertain significance | Inborn genetic diseases | 2023-10-30 | criteria provided, single submitter | clinical testing | The c.1382G>C (p.G461A) alteration is located in exon 10 (coding exon 9) of the IL21R gene. This alteration results from a G to C substitution at nucleotide position 1382, causing the glycine (G) at amino acid position 461 to be replaced by an alanine (A). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |