Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Institute of Human Genetics, |
RCV000170081 | SCV002026256 | pathogenic | Rett syndrome, congenital variant | 2018-01-20 | criteria provided, single submitter | clinical testing | |
Centre for Population Genomics, |
RCV004558431 | SCV005046869 | likely pathogenic | FOXG1 disorder | 2024-05-24 | 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: Occurs in the well-characterized Forkhead functional domain of FOXG1 (PM1). This variant is absent from gnomAD (PM2_Supporting). This variant has been identified as a de novo occurrence in an individual with FOXG1 disorder without confirmation of paternity and maternity (PM6, PMID: 21441262). Computational prediction analysis tools suggests a deleterious impact (REVEL score>= 0.75) (PP3) |
Rett |
RCV000170081 | SCV000222394 | pathogenic | Rett syndrome, congenital variant | 2011-09-26 | no assertion criteria provided | curation |