ClinVar Miner

Submissions for variant NM_005249.5(FOXG1):c.572T>G (p.Met191Arg)

dbSNP: rs2138661161
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Total submissions: 2
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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 RCV001785292 SCV002026245 likely pathogenic Rett syndrome, congenital variant 2018-01-20 criteria provided, single submitter clinical testing
Centre for Population Genomics, CPG RCV004558650 SCV005046863 likely pathogenic FOXG1 disorder 2024-05-10 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: Co-segregation with disease in multiple affected family members (3-4 informative meiosis) informative meiosis (PP1_Moderate). PMID: 26364767 Occurs in the well-characterized Forkhead functional domain of FOXG1 (PM1). Another missense variant in the same codon has been classified as pathogenic (PM5) Variation ID: 452682 Computational prediction analysis tools suggests a deleterious impact (REVEL score>= 0.75) (PP3). This variant is absent from gnomAD v4(PM2_Supporting). Has been observed in at least 2 individuals with phenotypes consistent with FOXG1 disorder (PS4_Supporting). PMID:26364767 PMID:26993267 PMID:27029630 Variation ID: 1325755

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