ClinVar Miner

Submissions for variant NM_139276.3(STAT3):c.1757T>C (p.Met586Thr)

gnomAD frequency: 0.00001  dbSNP: rs1459473021
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001320728 SCV001511525 uncertain significance Hyper-IgE recurrent infection syndrome 1, autosomal dominant; STAT3 gain of function 2020-09-09 criteria provided, single submitter clinical testing This variant is not present in population databases (ExAC no frequency). This sequence change replaces methionine with threonine at codon 586 of the STAT3 protein (p.Met586Thr). The methionine residue is moderately conserved and there is a moderate physicochemical difference between methionine and threonine. This variant has not been reported in the literature in individuals with STAT3-related conditions. 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: "Benign"; 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.
GeneDx RCV001760404 SCV001990279 uncertain significance not provided 2019-08-08 criteria provided, single submitter clinical testing Not observed at a significant frequency in large population cohorts (Lek et al., 2016); In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; Has not been previously published as pathogenic or benign to our knowledge

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