Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Labcorp Genetics |
RCV002710104 | SCV002994230 | uncertain significance | Immunodeficiency 39 | 2022-10-21 | criteria provided, single submitter | clinical testing | This variant has not been reported in the literature in individuals affected with IRF7-related conditions. 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) performed at Invitae indicates that this missense variant is not expected to disrupt IRF7 protein function. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database. This sequence change replaces glycine, which is neutral and non-polar, with aspartic acid, which is acidic and polar, at codon 328 of the IRF7 protein (p.Gly328Asp). |
| Ambry Genetics | RCV004067648 | SCV003566988 | uncertain significance | not specified | 2021-08-02 | criteria provided, single submitter | clinical testing | The c.983G>A (p.G328D) alteration is located in exon 7 (coding exon 7) of the IRF7 gene. This alteration results from a G to A substitution at nucleotide position 983, causing the glycine (G) at amino acid position 328 to be replaced by an aspartic acid (D). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |