ClinVar Miner

Submissions for variant NM_139276.3(STAT3):c.250C>T (p.Arg84Ter)

dbSNP: rs2082709836
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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 RCV001214267 SCV001385942 uncertain significance Hyper-IgE recurrent infection syndrome 1, autosomal dominant; STAT3 gain of function 2019-05-08 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. The current clinical and genetic evidence is not sufficient to establish whether loss-of-function variants in STAT3 cause disease. This variant has not been reported in the literature in individuals with STAT3-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Arg84*) in the STAT3 gene. It is expected to result in an absent or disrupted protein product.

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