Submissions for variant NM_014009.4(FOXP3):c.70C>T (p.Pro24Ser)

gnomAD frequency: 0.00002  dbSNP: rs1557116742

Total submissions: 3

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV003771858	SCV004640602	uncertain significance	Insulin-dependent diabetes mellitus secretory diarrhea syndrome	2023-08-28	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: 1284954). This variant has not been reported in the literature in individuals affected with FOXP3-related conditions. This variant is present in population databases (no rsID available, gnomAD 0.006%). This sequence change replaces proline, which is neutral and non-polar, with serine, which is neutral and polar, at codon 24 of the FOXP3 protein (p.Pro24Ser).
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV001703079	SCV001929936	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV001703079	SCV001972004	likely benign	not provided		no assertion criteria provided	clinical testing