ClinVar Miner

Submissions for variant NM_014009.4(FOXP3):c.1040G>A (p.Arg347His)

dbSNP: rs1557115786
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000801492 SCV000941269 pathogenic Insulin-dependent diabetes mellitus secretory diarrhea syndrome 2022-09-20 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Experimental studies have shown that this missense change affects FOXP3 function (PMID: 16920951, 21036387). 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 expected to disrupt FOXP3 protein function. ClinVar contains an entry for this variant (Variation ID: 647073). This missense change has been observed in individuals with IPEX syndrome (PMID: 12161590, 18951619, 25326164, 26661331, 31990476). This variant is not present in population databases (gnomAD no frequency). This sequence change replaces arginine, which is basic and polar, with histidine, which is basic and polar, at codon 347 of the FOXP3 protein (p.Arg347His).
Mayo Clinic Laboratories, Mayo Clinic RCV001509120 SCV001715659 pathogenic not provided 2020-03-13 criteria provided, single submitter clinical testing PS2, PS3, PS4, PM1, PM2, PP3, PP4
Clinical Genomics, Uppaluri K&H Personalized Medicine Clinic RCV000801492 SCV002605316 likely risk allele Insulin-dependent diabetes mellitus secretory diarrhea syndrome criteria provided, single submitter research Potent mutations in FOXP3 gene are associated with a rare X linked condition called IPEX. It presents with immune dysregulation, secretory diarrhea, polyendocrinopathy which includes diabtes type 1, thyroiditis, growth hormone deficiency and hypoadrenalism. It is associated with pancreatic beta cell destruction.However no sufficient evidence is found to ascertain the role of this particular variant rs1557115786, yet.
CeGaT Center for Human Genetics Tuebingen RCV001509120 SCV003917788 pathogenic not provided 2023-04-01 criteria provided, single submitter clinical testing FOXP3: PM1, PM2, PS3:Moderate, PS4:Moderate, PP3, PP4

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