ClinVar Miner

Submissions for variant NM_139276.3(STAT3):c.1437G>T (p.Trp479Cys)

dbSNP: rs1598397528
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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 RCV000815404 SCV000955855 uncertain significance Hyper-IgE recurrent infection syndrome 1, autosomal dominant; STAT3 gain of function 2018-08-23 criteria provided, single submitter clinical testing This sequence change replaces tryptophan with cysteine at codon 479 of the STAT3 protein (p.Trp479Cys). The tryptophan residue is highly conserved and there is a large physicochemical difference between tryptophan and cysteine. This variant is not present in population databases (ExAC no frequency). This variant has been observed in individuals affected with autosomal dominant Hyper-IgE syndrome (PMID: 23584561). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

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