Submissions for variant NM_014009.4(FOXP3):c.155G>T (p.Gly52Val)

gnomAD frequency: 0.00055  dbSNP: rs17847095

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Invitae	RCV000885000	SCV001028418	benign	Insulin-dependent diabetes mellitus secretory diarrhea syndrome	2024-01-02	criteria provided, single submitter	clinical testing
Genetic Services Laboratory, University of Chicago	RCV001817093	SCV002066118	benign	not specified	2017-08-10	criteria provided, single submitter	clinical testing
Fulgent Genetics, Fulgent Genetics	RCV000885000	SCV002803084	likely benign	Insulin-dependent diabetes mellitus secretory diarrhea syndrome	2021-07-14	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003910460	SCV004722946	benign	FOXP3-related disorder	2019-09-06	criteria provided, single submitter	clinical testing	This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV001817093	SCV004848593	benign	not specified	2021-11-09	criteria provided, single submitter	clinical testing	The p.Gly52Val variant in FOXP3 is classified as benign because it has been identified in 2.6% (247/9460) of East Asian chromosomes, including 86 hemizygous males, by gnomAD (http://gnomad.broadinstitute.org). ACMG/AMP Criteria applied: BA1.
State Key Laboratory of Oncogenes and Related Genes, Shanghai Cancer Institute, Ren Ji Hospital, School of Medicine, Shanghai Jiao Tong University	RCV000999510	SCV001156159	pathogenic	Non-obstructive azoospermia		no assertion criteria provided	case-control