ClinVar Miner

Submissions for variant NM_014009.4(FOXP3):c.1073G>A (p.Arg358Gln)

gnomAD frequency: 0.00001  dbSNP: rs1428528910
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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 RCV001059839 SCV001224487 uncertain significance Insulin-dependent diabetes mellitus secretory diarrhea syndrome 2019-11-25 criteria provided, single submitter clinical testing 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 missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). 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 arginine with glutamine at codon 358 of the FOXP3 protein (p.Arg358Gln). The arginine residue is moderately conserved and there is a small physicochemical difference between arginine and glutamine.
Genetic Services Laboratory, University of Chicago RCV001819784 SCV002065896 uncertain significance not specified 2021-11-17 criteria provided, single submitter clinical testing This sequence change does not appear to have been previously described in individuals with FOXP3-related disorders. This sequence change has been described in the gnomAD database in one individual which corresponds to a population frequency of 0.00057 % (dbSNP NA). The p.Arg358Gln change affects a moderately conserved amino acid residue located in a domain of the FOXP3 protein that is known to be functional. In-silico pathogenicity prediction tools (SIFT, PolyPhen2, Align GVGD, REVEL) provide contradictory results for the p.Arg358Gln substitution. Due to insufficient evidence and the lack of functional studies, the clinical significance of the p.Arg358Gln change remains unknown at this time.

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