ClinVar Miner

Submissions for variant NM_139276.3(STAT3):c.377G>A (p.Gly126Glu)

gnomAD frequency: 0.00001  dbSNP: rs777883261
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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 RCV001350580 SCV001544986 uncertain significance Hyper-IgE recurrent infection syndrome 1, autosomal dominant; STAT3 gain of function 2021-11-19 criteria provided, single submitter clinical testing This variant is present in population databases (rs777883261, gnomAD 0.002%). This sequence change replaces glycine, which is neutral and non-polar, with glutamic acid, which is acidic and polar, at codon 126 of the STAT3 protein (p.Gly126Glu). This variant has not been reported in the literature in individuals affected with STAT3-related conditions. 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. 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. ClinVar contains an entry for this variant (Variation ID: 1046071).

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