ClinVar Miner

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

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Total submissions: 4
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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 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

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