ClinVar Miner

Submissions for variant NM_005249.5(FOXG1):c.407_458del (p.Glu136fs) (rs1566445169)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000702418 SCV000831271 pathogenic Rett syndrome, congenital variant 2018-07-08 criteria provided, single submitter clinical testing This sequence change results in a premature translational stop signal in the FOXG1 gene (p.Glu136Glyfs*39). While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 354 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 been observed in an individual with FOXG1-related conditions (Invitae). A different truncation (p.p.Glu167Glyfs*25) that lies downstream of this variant has been determined to be pathogenic (PMID: 25356899, Invitae). 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.
Department of Genetics, Rouen University Hospital, Normandy Center for Genomic and Personalized Medicine RCV000702418 SCV000994547 pathogenic Rett syndrome, congenital variant 2016-10-11 criteria provided, single submitter clinical testing

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