ClinVar Miner

Submissions for variant NM_139276.3(STAT3):c.1925AGC[2] (p.Gln644del)

dbSNP: rs2081521901
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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 RCV001337284 SCV001530880 uncertain significance Hyper-IgE recurrent infection syndrome 1, autosomal dominant; STAT3 gain of function 2022-08-09 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 and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. This variant has been observed in individuals with hyper-IgE syndrome (PMID: 17881745, 23584561). This variant is not present in population databases (gnomAD no frequency). This variant, c.1931_1933del, results in the deletion of 1 amino acid(s) of the STAT3 protein (p.Gln644del), but otherwise preserves the integrity of the reading frame.

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