Submissions for variant NM_005249.5(FOXG1):c.256C>T (p.Gln86Ter) (rs398124202)

Minimum review status:		Collection method:
Minimum conflict level:
		ClinVar version:

Total submissions: 4

Download table as spreadsheet

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000187451	SCV000241044	pathogenic	not provided	2015-02-05	criteria provided, single submitter	clinical testing	The Q86X nonsense mutation in the FOXG1 gene has been identified previously in a patient with clinical features consistent with congenital Rett syndrome (Kortum et al., 2011). This mutation is predicted to cause loss of normal protein function through protein truncation. Although this mutation has not been reported previously to our knowledge, its presence is consistent with a diagnosis of a FOXG1-related disorder. The variant is found in FOXG1 panel(s).
NeuroMeGen,Hospital Clinico Santiago de Compostela	RCV000170072	SCV000693778	likely pathogenic	Rett syndrome, congenital variant	2018-01-01	criteria provided, single submitter	clinical testing
Center for Human Genetics, Inc,Center for Human Genetics, Inc	RCV000170072	SCV000781522	likely pathogenic	Rett syndrome, congenital variant	2016-11-01	criteria provided, single submitter	clinical testing
RettBASE	RCV000170072	SCV000222382	pathogenic	Rett syndrome, congenital variant	2011-09-26	no assertion criteria provided	curation

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.