ClinVar Miner

Submissions for variant NM_139276.3(STAT3):c.1682_1684del (p.Phe561del)

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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 RCV003781414 SCV004573340 uncertain significance Hyper-IgE recurrent infection syndrome 1, autosomal dominant; STAT3 gain of function 2023-08-23 criteria provided, single submitter clinical testing 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. Experimental studies have shown that this variant affects STAT3 function (PMID: 28667753). Algorithms developed to predict the effect of variants on protein structure and function are not available or were not evaluated for this variant. This variant has been observed in individuals with hyper IgE syndrome (PMID: 28667753; Invitae). This variant is not present in population databases (gnomAD no frequency). This variant, c.1682_1684del, results in the deletion of 1 amino acid(s) of the STAT3 protein (p.Phe561del), but otherwise preserves the integrity of the reading frame.

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