ClinVar Miner

Submissions for variant NM_014009.4(FOXP3):c.890G>C (p.Gly297Ala)

dbSNP: rs2066051349
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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 RCV001222630 SCV001394739 uncertain significance Insulin-dependent diabetes mellitus secretory diarrhea syndrome 2019-06-19 criteria provided, single submitter clinical testing Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The alanine amino acid residue is found in multiple mammalian species, suggesting that this missense change does not adversely affect protein function. 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. This variant has not been reported in the literature in individuals with FOXP3-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change replaces glycine with alanine at codon 297 of the FOXP3 protein (p.Gly297Ala). The glycine residue is weakly conserved and there is a small physicochemical difference between glycine and alanine.

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