ClinVar Miner

Submissions for variant NM_139276.3(STAT3):c.1234A>G (p.Thr412Ala)

dbSNP: rs1567713850
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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 RCV001047258 SCV001211199 uncertain significance Hyper-IgE recurrent infection syndrome 1, autosomal dominant; STAT3 gain of function 2019-01-22 criteria provided, single submitter clinical testing This variant has been observed in an individual affected with hyper IgE syndrome (PMID: 26743515). 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. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. This variant is not present in population databases (ExAC no frequency). This sequence change replaces threonine with alanine at codon 412 of the STAT3 protein (p.Thr412Ala). The threonine residue is moderately conserved and there is a small physicochemical difference between threonine and alanine.

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