ClinVar Miner

Submissions for variant NM_139276.3(STAT3):c.785G>A (p.Arg262Gln)

dbSNP: rs1451984094
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001058775 SCV001223367 uncertain significance Hyper-IgE recurrent infection syndrome 1, autosomal dominant; STAT3 gain of function 2019-06-06 criteria provided, single submitter clinical testing This sequence change replaces arginine with glutamine at codon 262 of the STAT3 protein (p.Arg262Gln). The arginine residue is moderately conserved and there is a small physicochemical difference between arginine and glutamine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with STAT3-related conditions. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. 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.
Mayo Clinic Laboratories, Mayo Clinic RCV003480938 SCV004224346 uncertain significance not provided 2023-04-19 criteria provided, single submitter clinical testing PP2

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