Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV002866539 | SCV003230624 | pathogenic | Rett syndrome, congenital variant | 2022-08-27 | criteria provided, single submitter | clinical testing | This variant has not been reported in the literature in individuals affected with FOXG1-related conditions. For these reasons, this variant has been classified as Pathogenic. This variant disrupts a region of the FOXG1 protein in which other variant(s) (p.Asn187Lys) have been determined to be pathogenic (PMID: 28628100, 28661489). This suggests that this is a clinically significant region of the protein, and that variants that disrupt it are likely to be disease-causing. This variant is not present in population databases (gnomAD no frequency). This variant, c.559_561del, results in the deletion of 1 amino acid(s) of the FOXG1 protein (p.Asn187del), but otherwise preserves the integrity of the reading frame. |