ClinVar Miner

Submissions for variant NM_014009.4(FOXP3):c.157G>A (p.Gly53Arg)

gnomAD frequency: 0.00002  dbSNP: rs587780340
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000117095 SCV000151238 uncertain significance not provided 2013-10-16 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001854567 SCV002292843 uncertain significance Insulin-dependent diabetes mellitus secretory diarrhea syndrome 2022-12-12 criteria provided, single submitter clinical testing 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. ClinVar contains an entry for this variant (Variation ID: 129110). This variant has not been reported in the literature in individuals affected with FOXP3-related conditions. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database. This sequence change replaces glycine, which is neutral and non-polar, with arginine, which is basic and polar, at codon 53 of the FOXP3 protein (p.Gly53Arg).

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