ClinVar Miner

Submissions for variant NM_014009.4(FOXP3):c.542+6T>C

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003625587 SCV004430259 uncertain significance Insulin-dependent diabetes mellitus secretory diarrhea syndrome 2023-09-04 criteria provided, single submitter clinical testing 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. Variants that disrupt the consensus splice site are a relatively common cause of aberrant splicing (PMID: 17576681, 9536098). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. This sequence change falls in intron 5 of the FOXP3 gene. It does not directly change the encoded amino acid sequence of the FOXP3 protein. It affects a nucleotide within the consensus splice site. This variant is present in population databases (rs781803685, gnomAD 0.004%). This variant has not been reported in the literature in individuals affected with FOXP3-related conditions.

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