ClinVar Miner

Submissions for variant NM_005249.5(FOXG1):c.406G>T (p.Glu136Ter)

dbSNP: rs1057520663
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000425305 SCV000516813 pathogenic not provided 2015-04-21 criteria provided, single submitter clinical testing The E136X nonsense variant in the FOXG1 gene is predicted to cause loss of normal protein functionthrough protein truncation, with loss of the last 354 amino acids in the protein. It was not observed inapproximately 1400 individuals of European and African American ancestry in the NHLBI ExomeSequencing Project, indicating it is not a common benign variant in these populations. Although thisvariant has not been reported previously to our knowledge, we interpret this variant as pathogenic.
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München RCV001254160 SCV001430113 pathogenic Rett syndrome, congenital variant 2020-06-08 criteria provided, single submitter clinical testing
Institute of Human Genetics, University of Leipzig Medical Center RCV001254160 SCV002026227 pathogenic Rett syndrome, congenital variant 2018-01-20 criteria provided, single submitter clinical testing

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