ClinVar Miner

Submissions for variant NM_014009.4(FOXP3):c.597C>T (p.Cys199=)

gnomAD frequency: 0.00001  dbSNP: rs782377881
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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 RCV001225176 SCV001397416 uncertain significance Insulin-dependent diabetes mellitus secretory diarrhea syndrome 2019-05-23 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. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site, but this prediction has not been confirmed by published transcriptional studies. This variant has not been reported in the literature in individuals with FOXP3-related conditions. This variant is present in population databases (rs782377881, ExAC 0.002%). This sequence change affects codon 199 of the FOXP3 mRNA. It is a 'silent' change, meaning that it does not change the encoded amino acid sequence of the FOXP3 protein.

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