ClinVar Miner

Submissions for variant NM_139276.3(STAT3):c.1064T>G (p.Phe355Cys)

dbSNP: rs2082009323
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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 RCV001201610 SCV001372688 uncertain significance Hyper-IgE recurrent infection syndrome 1, autosomal dominant; STAT3 gain of function 2019-09-05 criteria provided, single submitter clinical testing This variant is not present in population databases (ExAC no frequency). 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 are either unavailable or 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 conditions. This sequence change replaces phenylalanine with cysteine at codon 355 of the STAT3 protein (p.Phe355Cys). The phenylalanine residue is moderately conserved and there is a large physicochemical difference between phenylalanine and cysteine.

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