ClinVar Miner

Submissions for variant NM_139276.3(STAT3):c.2119A>G (p.Lys707Glu)

dbSNP: rs1598381169
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
NIHR Bioresource Rare Diseases, University of Cambridge RCV001027633 SCV001190205 likely pathogenic Inherited Immunodeficiency Diseases 2019-01-01 criteria provided, single submitter research
Labcorp Genetics (formerly Invitae), Labcorp RCV003768924 SCV004580241 uncertain significance Hyper-IgE recurrent infection syndrome 1, autosomal dominant; STAT3 gain of function 2023-10-29 criteria provided, single submitter clinical testing This sequence change replaces lysine, which is basic and polar, with glutamic acid, which is acidic and polar, at codon 707 of the STAT3 protein (p.Lys707Glu). This variant is not present in population databases (gnomAD no frequency). This missense change has been observed in individual(s) with STAT3-related conditions (PMID: 32499645). ClinVar contains an entry for this variant (Variation ID: 827745). 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 with a negative predictive value of 80%. 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.

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