ClinVar Miner

Submissions for variant NM_139276.3(STAT3):c.2123C>G (p.Thr708Ser)

dbSNP: rs2144622906
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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 RCV001823640 SCV002073236 likely pathogenic Hyper-IgE recurrent infection syndrome 1, autosomal dominant criteria provided, single submitter clinical testing The missense variant p.T708S in STAT3 (NM_139276.3) has been previously reported in patient with Hyper IgE syndrome ( Woellner C et al., 2010). This variant occurs at functionaly important transactivation domain of STAT3 gene. The p.T708S variant is novel (not in any individuals) in gnomAD Exomes and is novel (not in any individuals) in 1000 Genomes. The p.T708S missense variant is predicted to be damaging by both SIFT and PolyPhen2. The threonine residue at codon 708 of STAT3 is conserved in all mammalian species. The nucleotide c.2123 in STAT3 is predicted conserved by GERP++ and PhyloP across 100 vertebrates. For these reasons, this variant has been classified as Likely Pathogenic.

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