ClinVar Miner

Submissions for variant NM_014009.4(FOXP3):c.543C>T (p.Ser181=)

gnomAD frequency: 0.03006  dbSNP: rs2232367
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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000117096 SCV000151239 likely benign not specified 2013-03-27 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000117096 SCV000539193 benign not specified 2016-03-29 criteria provided, single submitter clinical testing Variant identified in a genome or exome case(s) and assessed due to predicted null impact of the variant or pathogenic assertions in the literature or databases. Disclaimer: This variant has not undergone full assessment. The following are preliminary notes: Frequency in ESP (all):314/10563= 2.97%
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics RCV000515082 SCV000610417 likely benign not provided 2017-03-09 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000550727 SCV000632384 benign Insulin-dependent diabetes mellitus secretory diarrhea syndrome 2024-01-31 criteria provided, single submitter clinical testing
Eurofins Ntd Llc (ga) RCV000117096 SCV000702663 benign not specified 2016-10-20 criteria provided, single submitter clinical testing
GeneDx RCV000515082 SCV001950583 benign not provided 2019-01-23 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 22132891, 12819471, 23374272, 16741580, 12161590, 11753102, 27884173, 29241729)
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000550727 SCV002048929 benign Insulin-dependent diabetes mellitus secretory diarrhea syndrome 2023-10-17 criteria provided, single submitter clinical testing
Clinical Genomics, Uppaluri K&H Personalized Medicine Clinic RCV000550727 SCV002605218 uncertain significance Insulin-dependent diabetes mellitus secretory diarrhea syndrome criteria provided, single submitter research Potent mutations in FOXP3 gene are associated with a rare X linked condition called IPEX. It presents with immune dysregulation, secretory diarrhea, polyendocrinopathy which includes diabtes type 1, thyroiditis, growth hormone deficiency and hypoadrenalism. It is associated with pancreatic beta cell destruction. However no sufficient evidence is found to ascertain the role of this particular variant rs2232367, yet.
Breakthrough Genomics, Breakthrough Genomics RCV000515082 SCV005209368 likely benign not provided criteria provided, single submitter not provided

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