ClinVar Miner

Submissions for variant NM_005249.5(FOXG1):c.1414_1417del (p.Ser472fs)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001060253 SCV001224930 pathogenic Rett syndrome, congenital variant 2019-06-04 criteria provided, single submitter clinical testing This sequence change results in a premature translational stop signal in the FOXG1 gene (p.Ser472Ilefs*15). While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 18 amino acids of the FOXG1 protein. This variant is not present in population databases (ExAC no frequency). This variant has been observed to be de novo in an individual affected with FOXG1-related disease (Invitae). For these reasons, this variant has been classified as Pathogenic.

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