Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Institute of Human Genetics, |
RCV001785286 | SCV002026235 | likely pathogenic | Rett syndrome, congenital variant | 2018-01-20 | criteria provided, single submitter | clinical testing | |
Centre for Population Genomics, |
RCV004558649 | SCV005046885 | likely pathogenic | FOXG1 disorder | 2024-05-30 | criteria provided, single submitter | curation | This variant has been collected from RettBASE and curated to current modified ACMG/AMP criteria. Based on the classification scheme defined by the ClinGen Rett/Angelman-like Expert Panel for Rett/AS-like Disorders Specifications to the ACMG/AMP Variant Interpretation Guidelines VCEP 3.0, this variant is classified as likely pathogenic. At least the following criteria are met: Has been observed in at least 2 individuals with phenotypes consistent with FOXG1 disorder (PS4_Supporting). PMID: 26364767 ClinVar Variation ID: 1325749 PMID: 24836831 Protein length changes due to in-frame deletions/insertions in a non-repeat region (PM4). Co-segregation with disease in multiple affected family members in at least 2 informative meiosis (PP1). PMID: 26364767 PMID: 24836831 At least one individual with this variant has been reported with a clinical phenotype consistent with FOXG1- related condition (PP4). PMID: 26364767 PMID: 24836831 This variant is absent from gnomAD (PM2_Supporting). |