ClinVar Miner

Submissions for variant NM_139276.3(STAT3):c.645+16G>A

gnomAD frequency: 0.00001  dbSNP: rs548066920
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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 RCV002041094 SCV002311638 uncertain significance Hyper-IgE recurrent infection syndrome 1, autosomal dominant; STAT3 gain of function 2023-12-09 criteria provided, single submitter clinical testing This sequence change falls in intron 7 of the STAT3 gene. It does not directly change the encoded amino acid sequence of the STAT3 protein. This variant is present in population databases (rs548066920, gnomAD 0.02%). This variant has not been reported in the literature in individuals affected with STAT3-related conditions. ClinVar contains an entry for this variant (Variation ID: 1517471). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. 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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