Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV003231161 | SCV003930225 | pathogenic | not provided | 2023-04-11 | criteria provided, single submitter | clinical testing | Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant does not alter protein structure/function; This variant is associated with the following publications: (PMID: 15737703, 26984561, 21831886, 12843318) |
Centre for Population Genomics, |
RCV000133089 | SCV004232279 | likely pathogenic | Rett syndrome | 2024-01-10 | 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 Methyl-DNA binding (MDB) functional domain of MECP2 (PM1). This variant has been identified as a de novo occurrence in an individual with Rett syndrome without confirmation of paternity and maternity (PM6). PMID: 15737703 Computational prediction analysis tools suggests a deleterious impact (REVEL score 0.91>= 0.75) (PP3). At least one individual with this variant has been reported with a clinical phenotype consistent with Rett syndrome (PP4). PMID: 15737703 This variant is absent from gnomAD (PM2_Supporting). |
Rett |
RCV000133089 | SCV000188078 | uncertain significance | Rett syndrome | 2008-02-18 | no assertion criteria provided | curation |