Submissions for variant NM_005249.5(FOXG1):c.1023C>G (p.Tyr341Ter) (rs764343290)

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Total submissions: 2

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Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Invitae	RCV000694652	SCV000823109	pathogenic	Rett syndrome, congenital variant	2018-04-24	criteria provided, single submitter	clinical testing	This sequence change results in a premature translational stop signal in the FOXG1 gene (p.Tyr341). While this is not anticipated to result in nonsense mediated decay, it is expected to delete the last 149 amino acids of the FOXG1 protein. This variant is not present in population databases (ExAC no frequency). This variant is observed to be de novo in an individual with clinical features consistent with FOXG1-related disease (Invitae). A different truncation (p.Tyr400) that lies downstream of this variant has been determined to be pathogenic (PMID: 19564653, 19806373). 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.
Fulgent Genetics,Fulgent Genetics	RCV000694652	SCV000893350	pathogenic	Rett syndrome, congenital variant	2018-10-31	criteria provided, single submitter	clinical testing

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