Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Clin |
RCV004584207 | SCV005068288 | likely benign | FOXG1 disorder | 2024-04-18 | reviewed by expert panel | curation | The p.Ser349Ala variant in FOXG1 is present in one XX and three XY individuals in gnomAD v2.1.1 (0.001418%) (not sufficient to meet BS1 criteria). The p.Ser349Ala variant is observed in at least 2 unaffected individuals (GeneDx internal database) (BS2). The p.Ser349Ala variant is found in a patient with an alternate molecular basis of disease (GeneDx internal database) (BP5). In summary, the p.Ser349Ala variant in FOXG1 is classified as likely benign based on the ACMG/AMP criteria (BS2, BP5). |
Gene |
RCV000428947 | SCV000241064 | likely benign | not provided | 2021-01-26 | criteria provided, single submitter | clinical testing | |
Center for Pediatric Genomic Medicine, |
RCV000428947 | SCV000511655 | uncertain significance | not provided | 2017-01-04 | criteria provided, single submitter | clinical testing | Converted during submission to Uncertain significance. |
Eurofins Ntd Llc |
RCV000428947 | SCV000708708 | uncertain significance | not provided | 2017-05-30 | criteria provided, single submitter | clinical testing | |
Labcorp Genetics |
RCV001210916 | SCV001382431 | uncertain significance | Rett syndrome, congenital variant | 2022-11-15 | 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. ClinVar contains an entry for this variant (Variation ID: 205497). This variant has not been reported in the literature in individuals affected with FOXG1-related conditions. This variant is present in population databases (rs796052472, gnomAD 0.002%). This sequence change replaces serine, which is neutral and polar, with alanine, which is neutral and non-polar, at codon 349 of the FOXG1 protein (p.Ser349Ala). |