ClinVar Miner

Submissions for variant NM_014009.4(FOXP3):c.959C>A (p.Thr320Lys)

gnomAD frequency: 0.00001  dbSNP: rs781881326
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001514819 SCV001722754 benign Insulin-dependent diabetes mellitus secretory diarrhea syndrome 2023-11-28 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV001824977 SCV002074246 likely benign not specified 2022-01-13 criteria provided, single submitter clinical testing Variant summary: FOXP3 c.959C>A (p.Thr320Lys) results in a non-conservative amino acid change in the encoded protein sequence. Three of five in-silico tools predict a benign effect of the variant on protein function. The variant allele was found at a frequency of 0.00014 in 182632 control chromosomes, predominantly at a frequency of 0.00095 within the Latino subpopulation in the gnomAD database, including 7 hemizygotes. The observed variant frequency within Latino control individuals in the gnomAD database is approximately equal to the estimated maximal expected allele frequency for a pathogenic variant in FOXP3 causing Insulin-Dependent Diabetes Mellitus Secretory Diarrhea Syndrome (0.00095 vs 0.0011), suggesting that the variant is a benign polymorphism found primarily in populations of Latino origin. To our knowledge, no occurrence of c.959C>A in individuals affected with Insulin-Dependent Diabetes Mellitus Secretory Diarrhea Syndrome and no experimental evidence demonstrating its impact on protein function have been reported. One clinical diagnostic laboratory has submitted clinical-significance assessments for this variant to ClinVar after 2014 and classified the variant as benign. Based on the evidence outlined above, the variant was classified as likely benign.
Clinical Genomics, Uppaluri K&H Personalized Medicine Clinic RCV001514819 SCV002605317 uncertain 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 rs781881326, yet.

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