Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV003110484 | SCV003781849 | uncertain significance | Rett syndrome, congenital variant | 2022-09-23 | criteria provided, single submitter | clinical testing | 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) performed at Invitae indicates that this missense variant is not expected to disrupt FOXG1 protein function. This variant has not been reported in the literature in individuals affected with FOXG1-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces proline, which is neutral and non-polar, with leucine, which is neutral and non-polar, at codon 77 of the FOXG1 protein (p.Pro77Leu). |
Ambry Genetics | RCV004621751 | SCV005118591 | uncertain significance | Inborn genetic diseases | 2024-04-24 | criteria provided, single submitter | clinical testing | The c.230C>T (p.P77L) alteration is located in exon 1 (coding exon 1) of the FOXG1 gene. This alteration results from a C to T substitution at nucleotide position 230, causing the proline (P) at amino acid position 77 to be replaced by a leucine (L). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |
Prevention |
RCV003963802 | SCV004780708 | uncertain significance | FOXG1-related disorder | 2023-10-27 | no assertion criteria provided | clinical testing | The FOXG1 c.230C>T variant is predicted to result in the amino acid substitution p.Pro77Leu. To our knowledge, this variant has not been reported in the literature or in a large population database (http://gnomad.broadinstitute.org), indicating this variant is rare. At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence. |