ClinVar Miner

Submissions for variant NM_005249.5(FOXG1):c.699G>T (p.Leu233=)

dbSNP: rs2138661396
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ClinGen Rett and Angelman-like Disorders Variant Curation Expert Panel RCV003448411 SCV004175933 uncertain significance FOXG1 disorder 2023-10-13 reviewed by expert panel curation The c.699G>T (p.Leu233=) variant in FOXG1 is absent from gnomAD (PM2_supporting). Splice prediction analysis, using multiple computational tools does not suggest an impact to splicing (BP4). In summary, the c.699G>T (p.Leu233=) variant in FOXG1 is classified as a Variant of Uncertain Significance based on the ACMG/AMP criteria (PM2_supporting, BP4).
Labcorp Genetics (formerly Invitae), Labcorp RCV001457892 SCV001661703 likely benign Rett syndrome, congenital variant 2020-03-05 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV001820149 SCV002070755 uncertain significance not specified 2019-05-20 criteria provided, single submitter clinical testing

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