ClinVar Miner

Submissions for variant NM_014009.4(FOXP3):c.-23+1G>T

dbSNP: rs1602693008
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego RCV000853242 SCV000996058 pathogenic Insulin-dependent diabetes mellitus secretory diarrhea syndrome 2017-02-27 criteria provided, single submitter clinical testing The c.-23+1G>T is a canonical splice variant located between the untranslated exon 1 and intron 1 in the FOXP3 gene. It is predicted to result in aberrant splicing. This canonical splice site variant has been previously reported as pathogenic (PMID: 21802372) and a different variant at the same site (c.-23+1G>A) has also been reported as pathogenic (PMID: 25911531). Variants at this site result in the predicted disruption of the splice site at the exon 1/intron 1 junction. This deletion was not found in the 1000 Genomes, Exome Variant Server (EVS) or ExAC databases and is thus presumed to be rare. Based on the combined evidence, this variant is classified as pathogenic.

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