ClinVar Miner

Submissions for variant NM_005249.5(FOXG1):c.624C>A (p.Tyr208Ter) (rs267606826)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Undiagnosed Diseases Network,NIH RCV000550163 SCV000622146 pathogenic Rett syndrome, congenital variant 2016-08-05 criteria provided, single submitter clinical testing This terminating amino acid change (p.Y208X) has been reported in at least one affected individual (PMID 19578037).
Invitae RCV000550163 SCV001399979 pathogenic Rett syndrome, congenital variant 2019-10-03 criteria provided, single submitter clinical testing This sequence change results in a premature translational stop signal in the FOXG1 gene (p.Tyr208*). While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 282 amino acids of the FOXG1 protein. This variant is not present in population databases (ExAC no frequency). This nonsense change has been observed in individual(s) with clinical features of Rett syndrome (PMID: 28661489, 19578037). In at least one individual the variant was observed to be de novo. ClinVar contains an entry for this variant (Variation ID: 453289). For these reasons, this variant has been classified as Pathogenic.
NIHR Bioresource Rare Diseases, University of Cambridge RCV001003977 SCV001162003 pathogenic Global developmental delay; Muscular hypotonia of the trunk; Stereotypy; Strabismus; Abnormality of the optic nerve no assertion criteria provided research
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille RCV000550163 SCV001427498 pathogenic Rett syndrome, congenital variant 2019-01-01 no assertion criteria provided clinical testing

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