Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Institute of Human Genetics Munich, |
RCV003335827 | SCV004045945 | likely pathogenic | Rett syndrome, congenital variant | 2023-07-13 | criteria provided, single submitter | clinical testing | |
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. |