ClinVar Miner

Submissions for variant NM_005249.5(FOXG1):c.1414_1417del (p.Ser472fs)

dbSNP: rs1881828200
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001060253 SCV001224930 pathogenic Rett syndrome, congenital variant 2023-03-23 criteria provided, single submitter clinical testing This variant is not present in population databases (gnomAD no frequency). This premature translational stop signal has been observed in individual(s) with FOXG1-related disease (Invitae). In at least one individual the variant was observed to be de novo. ClinVar contains an entry for this variant (Variation ID: 855075). For these reasons, this variant has been classified as Pathogenic. This sequence change creates a premature translational stop signal (p.Ser472Ilefs*15) in the FOXG1 gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 18 amino acid(s) of the FOXG1 protein.
Laboratory of Molecular Genetics (Pr. Bezieau's lab), CHU de Nantes RCV001779113 SCV002016324 pathogenic Neurodevelopmental disorder 2021-10-20 criteria provided, single submitter clinical testing

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