ClinVar Miner

Submissions for variant NM_001110792.2(MECP2):c.715C>G (p.Gln239Glu)

dbSNP: rs61749737
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
ClinGen Rett and Angelman-like Disorders Variant Curation Expert Panel RCV002472328 SCV002769695 uncertain significance Rett syndrome 2022-10-11 reviewed by expert panel curation The p.Gln227Glu variant in MECP2 (NM_004992.3) has been reported in an individual with clinical features of MECP2-related conditions (PMID 17383248). The p.Gln227Glu variant in MECP2 is absent from gnomAD (PM2_supporting). The p.Gln227Glu variant is observed in at least 1 unaffected male (internal database - Invitae) (BS2_supporting). In summary, the p.Gln227Glu variant in MECP2 is classified as a Variant of Uncertain Significance based on the ACMG/AMP criteria (PM2_supporting, BS2_supporting).
Labcorp Genetics (formerly Invitae), Labcorp RCV001522685 SCV001732272 benign Severe neonatal-onset encephalopathy with microcephaly 2022-08-16 criteria provided, single submitter clinical testing
Centre for Population Genomics, CPG RCV002472328 SCV004808778 uncertain significance Rett syndrome 2024-03-15 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 a variant of uncertain significance. At least the following criteria are met: This variant is absent from gnomAD (PM2_Supporting).
RettBASE RCV000133197 SCV000188195 uncertain significance X-linked intellectual disability-psychosis-macroorchidism syndrome 2007-11-01 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.