Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV001060253 | SCV001224930 | pathogenic | Rett syndrome, congenital variant | 2023-03-23 | criteria provided, single submitter | clinical testing | This variant is not present in population databases (gnomAD no frequency). 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. ClinVar contains an entry for this variant (Variation ID: 855075). For these reasons, this variant has been classified as Pathogenic. 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. |
Laboratory of Molecular Genetics |
RCV001779113 | SCV002016324 | pathogenic | Neurodevelopmental disorder | 2021-10-20 | criteria provided, single submitter | clinical testing |