ClinVar Miner

Submissions for variant NM_001571.6(IRF3):c.854G>A (p.Arg285Gln)

gnomAD frequency: 0.00002  dbSNP: rs750526659
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
OMIM RCV000190468 SCV000245351 risk factor Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 7 2015-08-24 no assertion criteria provided literature only
PreventionGenetics, part of Exact Sciences RCV004755803 SCV005357868 uncertain significance IRF3-related disorder 2024-08-22 no assertion criteria provided clinical testing The IRF3 c.854G>A variant is predicted to result in the amino acid substitution p.Arg285Gln. This variant has been reported in an individual with herpes simplex encephalitis, who inherited this variant from her unaffected father (Andersen et al 2015. PubMed ID: 26216125; Andersen et al. 2017. PubMed ID: 29217828). This variant is reported in 0.0078% of alleles in individuals of European (Non-Finnish) descent in gnomAD. At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

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