ClinVar Miner

Submissions for variant NM_006084.5(IRF9):c.407G>T (p.Ser136Ile)

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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 RCV004790125 SCV005400674 uncertain significance Immunodeficiency 65, susceptibility to viral infections 2023-06-22 criteria provided, single submitter clinical testing The missense variant c.407G>T (p.Ser136Ile) in the IRF9 gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. This variant is absent in the gnomAD Exomes. The amino acid Serine at position 136 is changed to a Isoleucine changing protein sequence and it might alter its composition and physico-chemical properties. Multiple lines of computational evidence (Polyphen - Damaging, SIFT - Damaging and MutationTaster - Disease causing) predict a damaging effect on protein structure and function for this variant. The amino acid change p.Ser136Ile in IRF9 is predicted as conserved by GERP++ and PhyloP across 100 vertebrates. For these reasons, this variant has been classified as Uncertain Significance. In the absence of another reportable variant, the molecular diagnosis is not confirmed.

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