ClinVar Miner

Submissions for variant NM_139276.3(STAT3):c.2082T>A (p.His694Gln)

gnomAD frequency: 0.00019  dbSNP: rs139701269
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000781324 SCV000919270 uncertain significance not specified 2018-06-07 criteria provided, single submitter clinical testing
Invitae RCV001070774 SCV001236042 uncertain significance Hyper-IgE recurrent infection syndrome 1; STAT3 gain of function 2021-12-08 criteria provided, single submitter clinical testing This sequence change replaces histidine, which is basic and polar, with glutamine, which is neutral and polar, at codon 694 of the STAT3 protein (p.His694Gln). This variant is present in population databases (rs139701269, gnomAD 0.01%). This missense change has been observed in individual(s) with leukocytosis and splenomegaly (PMID: 29296824). ClinVar contains an entry for this variant (Variation ID: 633187). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt STAT3 protein function. 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.
Genetic Services Laboratory,University of Chicago RCV000781324 SCV002066309 likely benign not specified 2020-02-17 criteria provided, single submitter clinical testing

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