ClinVar Miner

Submissions for variant NM_005249.5(FOXG1):c.506del (p.Gly169fs) (rs1452295073)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000541926 SCV000650053 pathogenic Rett syndrome, congenital variant 2019-06-14 criteria provided, single submitter clinical testing This sequence change results in a premature translational stop signal in the FOXG1 gene (p.Gly169Alafs*23). While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 322 amino acids of the FOXG1 protein. This variant is not present in population databases (ExAC no frequency). This variant has been observed in an individual affected with epilepsy, gross motor delays and no language abilities (PMID: 24836831). ClinVar contains an entry for this variant (Variation ID: 471470). This variant disrupts the C-terminus of the FOXG1 protein. Other variant(s) that disrupt this region (p.Tyr400*) have been determined to be pathogenic (PMID: 19564653). This suggests that variants that disrupt this region of the protein are likely to be causative of disease. For these reasons, this variant has been classified as Pathogenic.
Service de Génétique Moléculaire,Hôpital Robert Debré RCV000541926 SCV001432346 pathogenic Rett syndrome, congenital variant no assertion criteria provided clinical testing

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