ClinVar Miner

Submissions for variant NM_014009.4(FOXP3):c.551C>T (p.Ser184Leu)

gnomAD frequency: 0.00011  dbSNP: rs140222626
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago RCV000768225 SCV000898720 uncertain significance Insulin-dependent diabetes mellitus secretory diarrhea syndrome 2021-03-30 criteria provided, single submitter clinical testing FOXP3 NM_014009 exon 6 p.Ser184Leu (c.551C>T): This variant has not been reported in the literature but is present in 10/18163 African alleles including 5 hemizygotes in the Genome Aggregation Database (http://gnomad.broadinstitute.org/rs140222626). This variant amino acid Leucine (Leu) is present in >10 species including mammals and is not well conserved among evolutionarily distant species; this suggests that this variant may not impact the protein. Additional computational prediction tools do not suggest an impact. In summary, data on this variant is insufficient for disease classification. Therefore, the clinical significance of this variant is uncertain.
Labcorp Genetics (formerly Invitae), Labcorp RCV000768225 SCV003450410 benign Insulin-dependent diabetes mellitus secretory diarrhea syndrome 2023-04-24 criteria provided, single submitter clinical testing

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