ClinVar Miner

Submissions for variant NM_005249.5(FOXG1):c.800G>A (p.Gly267Asp)

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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 Munich, Klinikum Rechts Der Isar, TU München RCV003335827 SCV004045945 likely pathogenic Rett syndrome, congenital variant 2023-07-13 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV003335827 SCV004563702 likely pathogenic Rett syndrome, congenital variant 2023-11-29 criteria provided, single submitter clinical testing The FOXG1 c.800_801delinsAT; p.Gly267Asp variant, to our knowledge, is not reported in the medical literature or gene specific databases. This variant is absent from the Genome Aggregation Database (v2.1.1), indicating it is not a common polymorphism. This variant occurs in the critical Fork-head functional domain (Mitter 2018), and computational analyses predict that this variant is deleterious (REVEL: 0.777). Based on available information, this variant is considered to be likely pathogenic. References: Mitter D et al. FOXG1 syndrome: genotype-phenotype association in 83 patients with FOXG1 variants. Genet Med. 2018 Jan;20(1):98-108. PMID: 28661489.

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