ClinVar Miner

Submissions for variant NM_014009.4(FOXP3):c.247G>A (p.Gly83Arg)

gnomAD frequency: 0.00001  dbSNP: rs868911396
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001879506 SCV002140678 uncertain significance Insulin-dependent diabetes mellitus secretory diarrhea syndrome 2022-09-22 criteria provided, single submitter clinical testing ClinVar contains an entry for this variant (Variation ID: 1375113). This variant has not been reported in the literature in individuals affected with FOXP3-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces glycine, which is neutral and non-polar, with arginine, which is basic and polar, at codon 83 of the FOXP3 protein (p.Gly83Arg). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt FOXP3 protein function. 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. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site.
Fulgent Genetics, Fulgent Genetics RCV001879506 SCV002794466 uncertain significance Insulin-dependent diabetes mellitus secretory diarrhea syndrome 2021-09-07 criteria provided, single submitter clinical testing

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