ClinVar Miner

Submissions for variant NM_139276.3(STAT3):c.1976T>A (p.Ile659Asn)

dbSNP: rs1555563717
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center of Genomic medicine, Geneva, University Hospital of Geneva RCV000585688 SCV000693468 likely pathogenic Hyper-IgE recurrent infection syndrome 1, autosomal dominant 2017-09-25 criteria provided, single submitter clinical testing This missense variant in the STAT3 gene was identified in twin sisters with suspicion of Job syndrome, with multiple infections and pansynostosis.
Labcorp Genetics (formerly Invitae), Labcorp RCV001860114 SCV002218879 pathogenic Hyper-IgE recurrent infection syndrome 1, autosomal dominant; STAT3 gain of function 2022-06-27 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. 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 expected to disrupt STAT3 protein function. ClinVar contains an entry for this variant (Variation ID: 495061). This missense change has been observed in individual(s) with clinical features of hyper IgE syndrome (Invitae). In at least one individual the variant was observed to be de novo. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces isoleucine, which is neutral and non-polar, with asparagine, which is neutral and polar, at codon 659 of the STAT3 protein (p.Ile659Asn).

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