Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Centre for Population Genomics, |
RCV000133091 | SCV004232187 | likely pathogenic | Rett syndrome | 2023-11-09 | 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 2.0, this variant is classified as likely pathogenic. At least the following criteria are met: Occurs in the well-characterized Methyl-DNA binding (MDB) functional domain of MECP2 (PM1). Another missense variant in the same codon has been classified as pathogenic for Rett syndrome by the ClinGen Rett and Angelman-like Disorders Expert Panel (PM5). Computational prediction analysis tools suggests a deleterious impact (REVEL score >= 0.75) (PP3). This variant is absent from gnomAD (PM2_Supporting). |
Rett |
RCV000133091 | SCV000188080 | uncertain significance | Rett syndrome | 2008-01-21 | no assertion criteria provided | curation |