ClinVar Miner

Submissions for variant NM_014009.4(FOXP3):c.102C>A (p.Asp34Glu)

dbSNP: rs2066088699
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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 RCV001281015 SCV001468419 uncertain significance Diabetes mellitus type 1; Insulin-dependent diabetes mellitus secretory diarrhea syndrome 2020-08-04 criteria provided, single submitter clinical testing FOXP3 NM_014009.3 exon 2 p.Asp34Glu (c.102C>A): This variant has not been reported in the literature and is not present in large control databases. This variant Glutamic acid (Glu) is present in several species including mammals ; 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.
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago RCV003224546 SCV003919990 uncertain significance Insulin-dependent diabetes mellitus secretory diarrhea syndrome 2021-03-30 criteria provided, single submitter clinical testing FOXP3 NM_014009.3 exon 2 p.Asp34Glu (c.102C>A): This variant has not been reported in the literature and is not present in large control databases. This variant Glutamic acid (Glu) is present in several species including mammals ; 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.

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