ClinVar Miner

Submissions for variant NM_014009.4(FOXP3):c.977A>G (p.His326Arg)

gnomAD frequency: 0.00002  dbSNP: rs782429831
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 3
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV001334727 SCV001527653 uncertain significance Insulin-dependent diabetes mellitus secretory diarrhea syndrome 2018-11-03 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
Labcorp Genetics (formerly Invitae), Labcorp RCV001334727 SCV001559462 uncertain significance Insulin-dependent diabetes mellitus secretory diarrhea syndrome 2022-10-13 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. Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt FOXP3 protein function. ClinVar contains an entry for this variant (Variation ID: 1032588). This variant has not been reported in the literature in individuals affected with FOXP3-related conditions. This variant is present in population databases (rs782429831, gnomAD 0.01%). This sequence change replaces histidine, which is basic and polar, with arginine, which is basic and polar, at codon 326 of the FOXP3 protein (p.His326Arg).
Fulgent Genetics, Fulgent Genetics RCV001334727 SCV002783787 uncertain significance Insulin-dependent diabetes mellitus secretory diarrhea syndrome 2022-02-04 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.