Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Clin |
RCV004819245 | SCV005440657 | benign | FOXG1 disorder | 2024-10-30 | reviewed by expert panel | curation | The highest population minor allele frequency of the p.Asn353Ser variant in FOXG1 in gnomAD v4.1 is 0.0003074 in the South Asian population, which is higher than the ClinGen Rett and Angelman-like Disorders VCEP threshold (≥0.0003) for BA1, and therefore meets this criterion (BA1). The p.Asn353Ser variant in FOXG1 has been reported as a de novo occurrence (biological parentage unconfirmed) in an individual with progressive myoclonic epilepsy (PMID 29933521) (PM6). In summary, this variant meets the criteria to be classified as Benign. Although there are both pathogenic and benign types of evidence for this variant, the pathogenic evidence is not considered inconsistent with the final classification. ACMG/AMP criteria applied, as specified by the ClinGen Rett/Angelman-like expert panel: BA1, PM6. (FOXG1 Specifications Version 3.0.0; 10/30/2024). |
Labcorp Genetics |
RCV002166653 | SCV002474671 | likely benign | Rett syndrome, congenital variant | 2023-10-13 | criteria provided, single submitter | clinical testing | |
Revvity Omics, |
RCV002166653 | SCV003833647 | uncertain significance | Rett syndrome, congenital variant | 2020-10-02 | criteria provided, single submitter | clinical testing |