ClinVar Miner

Submissions for variant NM_139276.2(STAT3):c.454C>T (p.Arg152Trp) (rs869312890)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine RCV000210417 SCV000266405 pathogenic Autoimmune disease, multisystem, infantile-onset, 1 2014-10-30 criteria provided, single submitter research segregates with the phenotype in an affected family
Invitae RCV000653281 SCV000775160 pathogenic Hyper-IgE recurrent infection syndrome 1, autosomal dominant; STAT3 gain of function 2018-12-26 criteria provided, single submitter clinical testing This sequence change replaces arginine with tryptophan at codon 152 of the STAT3 protein (p.Arg152Trp). The arginine residue is moderately conserved and there is a moderate physicochemical difference between arginine and tryptophan. This variant is not present in population databases (ExAC no frequency). This variant has been reported to be de novo in an individual affected with multi-organ autoimmune disease (PMID: 25359994). ClinVar contains an entry for this variant (Variation ID: 224846). Experimental studies have shown that this missense change results in increased transcriptional activity of STAT3 compared to wildtype protein (PMID: 25359994). For these reasons, this variant has been classified as Pathogenic.

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