ClinVar Miner

Submissions for variant NM_014009.4(FOXP3):c.542+2T>G

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard RCV003226056 SCV003922150 likely pathogenic Insulin-dependent diabetes mellitus secretory diarrhea syndrome 2023-05-02 criteria provided, single submitter curation The hemizygous c.542+2T>G variant in FOXP3 was identified by our study in one individual with X-linked immunodysregulation, polyendocrinopathy, and enteropathy (IPEX). The c.542+2T>G variant in FOXP3 has not been previously reported in individuals with IPEX. This variant was absent from large population studies. This variant is located in the 5' splice region. Computational tools predict a splicing impact, though this information is not predictive enough to determine pathogenicity. Loss of function of the FOXP3 gene is an established disease mechanism in X-linked recessive IPEX. In summary, although additional studies are required to fully establish its clinical significance, this variant is likely pathogenic for X-linked IPEX. ACMG/AMP Criteria applied: PVS1, PM2_Supporting (Richards 2015).

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