Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Invitae | RCV001222550 | SCV001394654 | uncertain significance | Rett syndrome, congenital variant | 2022-12-15 | criteria provided, single submitter | clinical testing | This variant has not been reported in the literature in individuals affected with FOXG1-related conditions. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) has been performed at Invitae for this missense variant, however the output from this modeling did not meet the statistical confidence thresholds required to predict the impact of this variant on FOXG1 protein function. ClinVar contains an entry for this variant (Variation ID: 950770). This variant is not present in population databases (gnomAD no frequency). This sequence change replaces glycine, which is neutral and non-polar, with serine, which is neutral and polar, at codon 169 of the FOXG1 protein (p.Gly169Ser). |
| Ambry Genetics | RCV003259170 | SCV003970729 | uncertain significance | Inborn genetic diseases | 2023-04-19 | criteria provided, single submitter | clinical testing | The c.505G>A (p.G169S) alteration is located in exon 1 (coding exon 1) of the FOXG1 gene. This alteration results from a G to A substitution at nucleotide position 505, causing the glycine (G) at amino acid position 169 to be replaced by a serine (S). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |