ClinVar Miner

Submissions for variant NM_139276.3(STAT3):c.1887C>T (p.Ser629=)

gnomAD frequency: 0.00001  dbSNP: rs769658142
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001962667 SCV002208854 uncertain significance Hyper-IgE recurrent infection syndrome 1, autosomal dominant; STAT3 gain of function 2023-08-08 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. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant is not likely to affect RNA splicing. ClinVar contains an entry for this variant (Variation ID: 1436769). This variant has not been reported in the literature in individuals affected with STAT3-related conditions. This variant is present in population databases (rs769658142, gnomAD 0.01%). This sequence change replaces serine, which is neutral and polar, with serine, which is neutral and polar, at codon 629 of the STAT3 protein (Silent).
Fulgent Genetics, Fulgent Genetics RCV005016895 SCV005646044 uncertain significance Hyper-IgE recurrent infection syndrome 1, autosomal dominant; STAT3-related early-onset multisystem autoimmune disease 2024-03-19 criteria provided, single submitter clinical testing

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.