ClinVar Miner

Submissions for variant NM_014009.4(FOXP3):c.210+5G>A

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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 RCV003625215 SCV004414069 uncertain significance Insulin-dependent diabetes mellitus secretory diarrhea syndrome 2023-10-18 criteria provided, single submitter clinical testing This sequence change falls in intron 2 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 not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with FOXP3-related conditions. 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 is not likely to affect RNA splicing. 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.

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