ClinVar Miner

Submissions for variant NM_139276.3(STAT3):c.1969_1971dup (p.Tyr657dup)

dbSNP: rs2081520452
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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 RCV001234435 SCV001407081 uncertain significance Hyper-IgE recurrent infection syndrome 1, autosomal dominant; STAT3 gain of function 2023-03-18 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. Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. ClinVar contains an entry for this variant (Variation ID: 960835). This variant has not been reported in the literature in individuals affected with STAT3-related conditions. This variant is not present in population databases (gnomAD no frequency). This variant, c.1969_1971dup, results in the insertion of 1 amino acid(s) of the STAT3 protein (p.Tyr657dup), but otherwise preserves the integrity of the reading frame.

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