ClinVar Miner

Submissions for variant NM_005249.5(FOXG1):c.214C>T (p.Gln72Ter) (rs1555321237)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000576162 SCV000676978 pathogenic Rett syndrome, congenital variant 2017-06-22 criteria provided, single submitter clinical testing This sequence change results in a premature translational stop signal in the FOXG1 gene (p.Gln72*). While this is not anticipated to result in nonsense mediated decay, it is expected to delete the last 418 amino acids of the FOXG1 protein. While this variant is not present in population databases, the frequency information is unreliable, as metrics indicate poor data quality at this position in the ExAC database. This variant has not been reported in the literature in individuals with a FOXG1-related disease. Multiple truncations downstream of this variant have been determined to be pathogenic (PMID: 24836831). This suggests that deletion of this region of the FOXG1 protein is causative of disease. For these reasons, this variant has been classified as Pathogenic.
CeGaT Praxis fuer Humangenetik Tuebingen RCV001093029 SCV001249819 pathogenic not provided 2019-05-01 criteria provided, single submitter clinical testing

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