ClinVar Miner

Submissions for variant NM_005249.5(FOXG1):c.762C>G (p.Tyr254Ter)

dbSNP: rs587783642
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000145996 SCV000193145 pathogenic Rett syndrome, congenital variant 2013-02-08 criteria provided, single submitter clinical testing
Institute of Human Genetics, University of Leipzig Medical Center RCV000145996 SCV002026263 pathogenic Rett syndrome, congenital variant 2018-01-20 criteria provided, single submitter clinical testing
Centre for Population Genomics, CPG RCV004558348 SCV005046874 likely pathogenic FOXG1 disorder 2024-05-24 criteria provided, single submitter curation This variant has been collected from RettBASE and curated to current modified ACMG/AMP criteria. Based on the classification scheme defined by the ClinGen Rett/Angelman-like Expert Panel for Rett/AS-like Disorders Specifications to the ACMG/AMP Variant Interpretation Guidelines VCEP 3.0, this variant is classified as likely pathogenic. At least the following criteria are met: Predicted to result in loss of function, and LOF is a known mechanism of disease (PVS1). This variant is absent from gnomAD (PM2_Supporting).

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