ClinVar Miner

Submissions for variant NM_014009.4(FOXP3):c.1247A>T (p.Lys416Ile)

dbSNP: rs1569529568
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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 RCV000705409 SCV000834405 uncertain significance Insulin-dependent diabetes mellitus secretory diarrhea syndrome 2018-04-23 criteria provided, single submitter clinical testing Algorithms developed to predict the effect of missense changes on protein structure and function do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C15"). This variant has not been reported in the literature in individuals with FOXP3-related disease. This variant is not present in population databases (ExAC no frequency). This sequence change replaces lysine with isoleucine at codon 416 of the FOXP3 protein (p.Lys416Ile). The lysine residue is moderately conserved and there is a moderate physicochemical difference between lysine and isoleucine. 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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