ClinVar Miner

Submissions for variant NM_139276.3(STAT3):c.1906T>C (p.Ser636Pro)

dbSNP: rs1567707544
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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 RCV000706399 SCV000835446 uncertain significance Hyper-IgE recurrent infection syndrome 1, autosomal dominant; STAT3 gain of function 2018-01-09 criteria provided, single submitter clinical testing Other missense substitutions at this codon (p.Ser636Phe and p.Ser636Tyr) have been reported in individuals affected with hyper IgE syndrome (PMID: 18602572, 20159255). This sequence change replaces serine with proline at codon 636 of the STAT3 protein (p.Ser636Pro). The serine residue is highly conserved and there is a moderate physicochemical difference between serine and proline. 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 do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). This variant has not been reported in the literature in individuals with STAT3-related disease. This variant is not present in population databases (ExAC no frequency).

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