ClinVar Miner

Submissions for variant NM_014009.4(FOXP3):c.130A>G (p.Thr44Ala)

gnomAD frequency: 0.00001  dbSNP: rs782474624
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
Labcorp Genetics (formerly Invitae), Labcorp RCV001231807 SCV001404339 uncertain significance Insulin-dependent diabetes mellitus secretory diarrhea syndrome 2021-05-03 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals with FOXP3-related conditions. While this variant is present in population databases (rs782474624), the frequency information is unreliable, as metrics indicate poor data quality at this position in the ExAC database. This sequence change replaces threonine with alanine at codon 44 of the FOXP3 protein (p.Thr44Ala). The threonine residue is weakly conserved and there is a small physicochemical difference between threonine and alanine. Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The alanine amino acid residue is found in multiple mammalian species, suggesting that this missense change does not adversely affect protein function. 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.
Baylor Genetics RCV001231807 SCV001525471 uncertain significance Insulin-dependent diabetes mellitus secretory diarrhea syndrome 2019-09-01 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
Fulgent Genetics, Fulgent Genetics RCV001231807 SCV002776041 uncertain significance Insulin-dependent diabetes mellitus secretory diarrhea syndrome 2021-12-13 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.