ClinVar Miner

Submissions for variant NM_002163.4(IRF8):c.25C>T (p.Arg9Trp)

dbSNP: rs759579543
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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 RCV001297959 SCV001486999 uncertain significance Immunodeficiency 32B; Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency 2020-05-03 criteria provided, single submitter clinical testing This sequence change replaces arginine with tryptophan at codon 9 of the IRF8 protein (p.Arg9Trp). The arginine residue is highly conserved and there is a moderate physicochemical difference between arginine and tryptophan. 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. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). This variant has not been reported in the literature in individuals with IRF8-related conditions. This variant is present in population databases (rs759579543, ExAC 0.001%).

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