ClinVar Miner

Submissions for variant NM_002163.4(IRF8):c.590C>T (p.Ala197Val)

gnomAD frequency: 0.00007  dbSNP: rs768395792
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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 RCV001046301 SCV001210198 uncertain significance Immunodeficiency 32B; Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency 2023-08-01 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. ClinVar contains an entry for this variant (Variation ID: 843627). This variant has not been reported in the literature in individuals affected with IRF8-related conditions. This variant is present in population databases (rs768395792, gnomAD 0.01%). This sequence change replaces alanine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 197 of the IRF8 protein (p.Ala197Val).

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