ClinVar Miner

Submissions for variant NM_139276.3(STAT3):c.375A>G (p.Gln125=)

gnomAD frequency: 0.00001  dbSNP: rs747081170
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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 RCV001047868 SCV001211850 uncertain significance Hyper-IgE recurrent infection syndrome 1, autosomal dominant; STAT3 gain of function 2019-01-24 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. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site, but this prediction has not been confirmed by published transcriptional studies. This variant has not been reported in the literature in individuals with STAT3-related conditions. This variant is present in population databases (rs747081170, ExAC 0.01%). This sequence change affects codon 125 of the STAT3 mRNA. It is a 'silent' change, meaning that it does not change the encoded amino acid sequence of the STAT3 protein.

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