ClinVar Miner

Submissions for variant NM_014009.4(FOXP3):c.694T>G (p.Cys232Gly)

dbSNP: rs1569529715
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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 RCV000701902 SCV000830725 pathogenic Insulin-dependent diabetes mellitus secretory diarrhea syndrome 2021-03-22 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This variant has been reported to affect FOXP3 protein function (PMID: 30510991). This variant has been observed in individual(s) with IPEX syndrome (PMID: 24792626, Invitae). It has also been observed to segregate with disease in related individuals. ClinVar contains an entry for this variant (Variation ID: 578790). This variant is not present in population databases (ExAC no frequency). This sequence change replaces cysteine with glycine at codon 232 of the FOXP3 protein (p.Cys232Gly). The cysteine residue is moderately conserved and there is a large physicochemical difference between cysteine and glycine.

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