Total submissions: 1
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Invitae | RCV001900777 | SCV002164442 | likely pathogenic | Immunodeficiency 104 | 2022-07-12 | criteria provided, single submitter | clinical testing | This variant has not been reported in the literature in individuals affected with IL7R-related conditions. In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic. This variant disrupts the p.Gln45 amino acid residue in IL7R. Other variant(s) that disrupt this residue have been determined to be pathogenic (PMID: 31031743). This suggests that this residue is clinically significant, and that variants that disrupt this residue are likely to be disease-causing. Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is expected to disrupt IL7R protein function. ClinVar contains an entry for this variant (Variation ID: 1393864). This variant is not present in population databases (gnomAD no frequency). This sequence change replaces glutamine, which is neutral and polar, with histidine, which is basic and polar, at codon 45 of the IL7R protein (p.Gln45His). |