ClinVar Miner

Submissions for variant NM_014009.4(FOXP3):c.619G>A (p.Val207Ile)

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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 RCV003512888 SCV004364224 uncertain significance Insulin-dependent diabetes mellitus secretory diarrhea syndrome 2023-01-26 criteria provided, single submitter clinical testing This sequence change replaces valine, which is neutral and non-polar, with isoleucine, which is neutral and non-polar, at codon 207 of the FOXP3 protein (p.Val207Ile). 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. 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. This variant has not been reported in the literature in individuals affected with FOXP3-related conditions. This variant is present in population databases (no rsID available, gnomAD 0.001%).

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