ClinVar Miner

Submissions for variant NM_005249.5(FOXG1):c.700T>C (p.Ser234Pro)

dbSNP: rs786205008
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Total submissions: 3
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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 RCV000170081 SCV002026256 pathogenic Rett syndrome, congenital variant 2018-01-20 criteria provided, single submitter clinical testing
Centre for Population Genomics, CPG RCV004558431 SCV005046869 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: Occurs in the well-characterized Forkhead functional domain of FOXG1 (PM1). This variant is absent from gnomAD (PM2_Supporting). This variant has been identified as a de novo occurrence in an individual with FOXG1 disorder without confirmation of paternity and maternity (PM6, PMID: 21441262). Computational prediction analysis tools suggests a deleterious impact (REVEL score>= 0.75) (PP3)
RettBASE RCV000170081 SCV000222394 pathogenic Rett syndrome, congenital variant 2011-09-26 no assertion criteria provided curation

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