Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Labcorp Genetics |
RCV002044284 | SCV002112633 | uncertain significance | Immunodeficiency 39 | 2023-08-04 | criteria provided, single submitter | clinical testing | This sequence change replaces histidine, which is basic and polar, with glutamine, which is neutral and polar, at codon 365 of the IRF7 protein (p.His365Gln). This variant is present in population databases (rs753003737, gnomAD 0.004%). 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. 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) has been performed at Invitae for this missense variant, however the output from this modeling did not meet the statistical confidence thresholds required to predict the impact of this variant on IRF7 protein function. ClinVar contains an entry for this variant (Variation ID: 1348380). This variant has not been reported in the literature in individuals affected with IRF7-related conditions. |
| Ambry Genetics | RCV004038801 | SCV003594991 | uncertain significance | not specified | 2023-12-27 | criteria provided, single submitter | clinical testing | The c.1095C>G (p.H365Q) alteration is located in exon 7 (coding exon 7) of the IRF7 gene. This alteration results from a C to G substitution at nucleotide position 1095, causing the histidine (H) at amino acid position 365 to be replaced by a glutamine (Q). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |