ClinVar Miner

Submissions for variant NM_139276.3(STAT3):c.2113T>C (p.Tyr705His)

dbSNP: rs2081288410
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 1
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001217584 SCV001389430 uncertain significance Hyper-IgE recurrent infection syndrome 1, autosomal dominant; STAT3 gain of function 2019-04-26 criteria provided, single submitter clinical testing This variant is not present in population databases (ExAC no frequency). This sequence change replaces tyrosine with histidine at codon 705 of the STAT3 protein (p.Tyr705His). The tyrosine residue is highly conserved and there is a moderate physicochemical difference between tyrosine and histidine. This variant has been observed in an individual affected with hyper IgE syndrome (PMID: 28197791). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0"). This variant disrupts the p.Tyr705 amino acid residue in STAT3. Other variant(s) that disrupt this residue have been observed in individuals with STAT3-related conditions (PMID: 19577286), which suggests that this may be a clinically significant amino acid residue. 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 information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.