ClinVar Miner

Submissions for variant NM_002163.4(IRF8):c.343G>C (p.Glu115Gln)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002304126 SCV002591836 uncertain significance Immunodeficiency 32B; Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency 2022-09-21 criteria provided, single submitter clinical testing 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 IRF8 protein function. This variant has not been reported in the literature in individuals affected with IRF8-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces glutamic acid, which is acidic and polar, with glutamine, which is neutral and polar, at codon 115 of the IRF8 protein (p.Glu115Gln).

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