ClinVar Miner

Submissions for variant NM_014009.4(FOXP3):c.324G>A (p.Thr108=)

gnomAD frequency: 0.00245  dbSNP: rs111856931
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000503676 SCV000594874 likely benign not specified 2015-11-23 criteria provided, single submitter clinical testing
Eurofins Ntd Llc (ga) RCV000503676 SCV000862528 likely benign not specified 2018-07-19 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000905469 SCV001050054 benign Insulin-dependent diabetes mellitus secretory diarrhea syndrome 2024-01-29 criteria provided, single submitter clinical testing
Clinical Genomics, Uppaluri K&H Personalized Medicine Clinic RCV000905469 SCV002605325 benign 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 rs111856931, yet.
PreventionGenetics, part of Exact Sciences RCV003960166 SCV004771009 likely benign FOXP3-related disorder 2021-10-29 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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