ClinVar Miner

Submissions for variant NM_005249.5(FOXG1):c.298del (p.Gln100fs)

dbSNP: rs587783636
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000145988 SCV000193137 pathogenic Rett syndrome, congenital variant 2013-02-08 criteria provided, single submitter clinical testing
GeneDx RCV000187476 SCV000241069 pathogenic not provided 2025-01-16 criteria provided, single submitter clinical testing Frameshift variant predicted to result in protein truncation in a gene for which loss-of-function is a known mechanism of disease; This variant is associated with the following publications: (PMID: 29655203, 34964776, 26344814)
Institute of Human Genetics, University of Leipzig Medical Center RCV000145988 SCV002026225 pathogenic Rett syndrome, congenital variant 2018-01-20 criteria provided, single submitter clinical testing
Centre for Population Genomics, CPG RCV005053928 SCV005687644 pathogenic Rett syndrome 2024-12-24 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 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: 26344814). This variant is absent from gnomAD (PM2_Supporting).

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