ClinVar Miner

Submissions for variant NM_139276.3(STAT3):c.1393T>G (p.Ser465Ala)

dbSNP: rs1598397592
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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 RCV000813988 SCV000954375 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 serine with alanine at codon 465 of the STAT3 protein (p.Ser465Ala). The serine residue is highly conserved and there is a moderate physicochemical difference between serine and alanine. This variant is not present in population databases (ExAC no frequency). This variant has been observed in an individual affected with hyper-IgE syndrome (PMID: 17881745). Experimental studies have shown that this missense change affects normal STAT3 protein function (PMID: 26384563). 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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