ClinVar Miner

Submissions for variant NM_001110792.2(MECP2):c.413+1G>T

dbSNP: rs267608463
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 4
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Centre for Mendelian Genomics, University Medical Centre Ljubljana RCV000626871 SCV000747574 pathogenic Stereotypic movement disorder; Delayed speech and language development; Delayed gross motor development; Bruxism 2017-01-01 criteria provided, single submitter clinical testing
Centre for Population Genomics, CPG RCV000170192 SCV004101605 pathogenic Rett syndrome 2023-10-12 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 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). Computational prediction analysis tools suggests a deleterious impact (SpliceAI >=0.2).
RettBASE RCV000144100 SCV000189176 not provided not provided flagged submission not provided
RettBASE RCV000170192 SCV000222521 pathogenic Rett syndrome 2008-02-18 no assertion criteria provided curation

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.