ClinVar Miner

Submissions for variant NM_005249.5(FOXG1):c.581T>G (p.Ile194Ser)

dbSNP: rs2138661171
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Human Genetics, University of Leipzig Medical Center RCV001785293 SCV002026247 likely pathogenic Rett syndrome, congenital variant 2018-01-20 criteria provided, single submitter clinical testing
GeneDx RCV003442906 SCV004170574 likely pathogenic not provided 2023-10-31 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Not observed at significant frequency in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 31019990, 31199603, 28661489)

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