ClinVar Miner

Submissions for variant NM_002163.4(IRF8):c.944G>A (p.Arg315His)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Neuberg Centre For Genomic Medicine, NCGM RCV004818849 SCV005438745 uncertain significance Immunodeficiency 32B 2023-07-22 criteria provided, single submitter clinical testing The observed missense variant c.944G>Ap.Arg315His in IRF8 gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. The p.Arg315His variant is absent in gnomAD Exomes. The amino acid Arg at position 315 is changed to a His changing protein sequence and it might alter its composition and physico-chemical properties. Multiple lines of computational evidence Polyphen-probably damaging, SIFT-damaging and Mutation Taster-disease causing predict a damaging effect on protein structure and function for this variant. The amino acid change p.Arg315His in IRF8 is predicted as conserved by GERP++ and PhyloP across 100 vertebrates. For these reasons, this variant has been classified as Uncertain Significance.

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