ClinVar Miner

Submissions for variant NM_005249.5(FOXG1):c.1200C>G (p.Tyr400Ter)

dbSNP: rs138747073
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Total submissions: 5
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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 RCV000014886 SCV002026272 pathogenic Rett syndrome, congenital variant 2018-01-20 criteria provided, single submitter clinical testing
GeneDx RCV003441718 SCV004168958 pathogenic not provided 2023-05-02 criteria provided, single submitter clinical testing Nonsense variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss of function is a known mechanism of disease; Not observed at significant frequency in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 19564653)
Centre for Population Genomics, CPG RCV004558253 SCV005046881 pathogenic FOXG1 disorder 2024-05-27 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 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 has been identified as a de novo occurrence in an individual with FOXG1 disorder without confirmation of paternity and maternity (PM6, PMID: 19564653). This variant is absent from gnomAD v4.1 (PM2_Supporting).
OMIM RCV000014886 SCV000035141 pathogenic Rett syndrome, congenital variant 2010-01-01 no assertion criteria provided literature only
RettBASE RCV000014886 SCV000222379 pathogenic Rett syndrome, congenital variant 2010-07-13 no assertion criteria provided curation

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