ClinVar Miner

Submissions for variant NM_014009.4(FOXP3):c.439C>G (p.Pro147Ala)

gnomAD frequency: 0.00002  dbSNP: rs781856708
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000594280 SCV000702668 uncertain significance not provided 2016-11-17 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002491183 SCV002775387 uncertain significance Insulin-dependent diabetes mellitus secretory diarrhea syndrome 2021-08-13 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002491183 SCV002943341 uncertain significance Insulin-dependent diabetes mellitus secretory diarrhea syndrome 2022-09-23 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. 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. ClinVar contains an entry for this variant (Variation ID: 497913). This variant has not been reported in the literature in individuals affected with FOXP3-related conditions. This variant is present in population databases (rs781856708, gnomAD 0.05%), and has an allele count higher than expected for a pathogenic variant. This sequence change replaces proline, which is neutral and non-polar, with alanine, which is neutral and non-polar, at codon 147 of the FOXP3 protein (p.Pro147Ala).

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