ClinVar Miner

Submissions for variant NM_014009.4(FOXP3):c.1027G>A (p.Ala343Thr)

dbSNP: rs782649847
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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 RCV001209537 SCV001380977 uncertain significance Insulin-dependent diabetes mellitus secretory diarrhea syndrome 2019-05-23 criteria provided, single submitter clinical testing This sequence change replaces alanine with threonine at codon 343 of the FOXP3 protein (p.Ala343Thr). The alanine residue is highly conserved and there is a small physicochemical difference between alanine and threonine. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the ExAC database. This variant has not been reported in the literature in individuals with FOXP3-related conditions. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. 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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