ClinVar Miner

Submissions for variant NM_014009.4(FOXP3):c.970T>G (p.Phe324Val)

dbSNP: rs122467173
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
AiLife Diagnostics, AiLife Diagnostics RCV002223572 SCV002501297 uncertain significance not provided 2022-02-04 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV003089178 SCV003027791 uncertain significance Insulin-dependent diabetes mellitus secretory diarrhea syndrome 2023-08-30 criteria provided, single submitter clinical testing This sequence change replaces phenylalanine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 324 of the FOXP3 protein (p.Phe324Val). This variant is not present in population databases (gnomAD no frequency). 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. An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be tolerated. ClinVar contains an entry for this variant (Variation ID: 1677891). This variant has not been reported in the literature in individuals affected with FOXP3-related conditions.
CeGaT Center for Human Genetics Tuebingen RCV002223572 SCV005042372 uncertain significance not provided 2024-04-01 criteria provided, single submitter clinical testing FOXP3: PM2

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