ClinVar Miner

Submissions for variant NM_014009.4(FOXP3):c.1036A>G (p.Ile346Val)

dbSNP: rs1557115789
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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 RCV000635245 SCV000756631 uncertain significance Insulin-dependent diabetes mellitus secretory diarrhea syndrome 2022-12-05 criteria provided, single submitter clinical testing 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 isoleucine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 346 of the FOXP3 protein (p.Ile346Val). ClinVar contains an entry for this variant (Variation ID: 529766). 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 expected to disrupt FOXP3 protein function.

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