ClinVar Miner

Submissions for variant NM_139276.3(STAT3):c.1859C>G (p.Thr620Ser)

dbSNP: rs1567708034
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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 RCV001380075 SCV001578018 pathogenic Hyper-IgE recurrent infection syndrome 1, autosomal dominant; STAT3 gain of function 2020-09-08 criteria provided, single submitter clinical testing Experimental studies have shown that this variant affects STAT3 protein function (PMID: 32248557). This variant has been observed in individual(s) with hyper IgE syndrome (PMID: 23659370, 27091139). In at least one individual the variant was observed to be de novo. This sequence change replaces threonine with serine at codon 620 of the STAT3 protein (p.Thr620Ser). The threonine residue is moderately conserved and there is a small physicochemical difference between threonine and serine. This variant is not present in population databases (ExAC no frequency). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is expected to disrupt STAT3 protein function. For these reasons, this variant has been classified as Pathogenic.

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