ClinVar Miner

Submissions for variant NM_014009.4(FOXP3):c.1147-12G>A

dbSNP: rs370285865
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001917505 SCV002160287 uncertain significance Insulin-dependent diabetes mellitus secretory diarrhea syndrome 2022-10-09 criteria provided, single submitter clinical testing This sequence change falls in intron 11 of the FOXP3 gene. It does not directly change the encoded amino acid sequence of the FOXP3 protein. 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 disrupt the consensus splice site. ClinVar contains an entry for this variant (Variation ID: 1390061). This variant has not been reported in the literature in individuals affected with FOXP3-related conditions. This variant is not present in population databases (gnomAD no frequency).
GeneDx RCV004770261 SCV005379978 uncertain significance not provided 2023-12-15 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports a deleterious effect on splicing; Has not been previously published as pathogenic or benign to our knowledge

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