Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000255199 | SCV000322255 | pathogenic | not provided | 2016-04-11 | criteria provided, single submitter | clinical testing | The c.480_481delTG pathogenic variant in the MECP2 gene has been reported previously using alternate nomenclature 480del2 in an individual with atypical Rett syndrome (Weaving et al., 2003). The c.480_481delTG variant causes a frameshift starting with codon Glycine 161, changes this amino acid to a Glutamic Acid residue, and creates a premature Stop codon at position 13 of the new reading frame, denoted p.Gly161GlufsX13. This variant is predicted to cause loss of normal protein function through protein truncation as the last 326 amino acids of the MECP2 protein are lost and replaced with 12 incorrect amino acids. The c.480_481delTG variant was not observed in approximately 6500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. We interpret c.480_481delTG as a pathogenic variant. |
Centre for Population Genomics, |
RCV000133133 | SCV005040713 | likely pathogenic | Rett syndrome | 2024-01-23 | 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: Predicted to result in loss of function, and LOF is a known mechanism of disease (PVS1). This variant is absent from gnomAD (PM2_Supporting). |
Rett |
RCV000133133 | SCV000188125 | pathogenic | Rett syndrome | 2002-04-05 | no assertion criteria provided | curation |