Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001060253 | SCV001224930 | pathogenic | Rett syndrome, congenital variant | 2023-03-23 | criteria provided, single submitter | clinical testing | ClinVar contains an entry for this variant (Variation ID: 855075). This premature translational stop signal has been observed in individual(s) with FOXG1-related disease (Invitae). In at least one individual the variant was observed to be de novo. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Ser472Ilefs*15) in the FOXG1 gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 18 amino acid(s) of the FOXG1 protein. For these reasons, this variant has been classified as Pathogenic. |
Laboratory of Molecular Genetics |
RCV001779113 | SCV002016324 | pathogenic | Neurodevelopmental disorder | 2021-10-20 | criteria provided, single submitter | clinical testing |