ClinVar Miner

Submissions for variant NM_139276.3(STAT3):c.373-5G>A

dbSNP: rs950657107
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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 RCV000823041 SCV000963879 uncertain significance Hyper-IgE recurrent infection syndrome 1, autosomal dominant; STAT3 gain of function 2018-10-14 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 disrupt the consensus 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 disease. This variant is not present in population databases (ExAC no frequency). This sequence change falls in intron 4 of the STAT3 gene. It does not directly change the encoded amino acid sequence of the STAT3 protein.

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