ClinVar Miner

Submissions for variant NM_001110792.2(MECP2):c.726del (p.Gly244fs) (rs1064793576)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000482709 SCV000566490 pathogenic not provided 2017-02-24 criteria provided, single submitter clinical testing The c.690delA pathogenic variant in the MECP2 gene causes a frameshift starting with codon Glycine 232, changes this amino acid to an Alanine residue and creates a premature Stop codon at position 16 of the new reading frame, denoted p.Gly232AlafsX16. This pathogenic variant is predicted to cause loss of normal protein function through protein truncation as the last 255 amino acids of the MECP2 protein are lost and replaced with 15 incorrect amino acids. Although this pathogenic variant has not been previously reported to our knowledge, a different nucleotide change, c.695delG, resulting in the same frameshift variant has been reported multiple times previously in association with Rett syndrome (RettBASE). Therefore, the presence of c.690delA is consistent with the diagnosis of Rett syndrome in this individual.
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille RCV001251834 SCV001427576 pathogenic Rett syndrome 2019-01-01 no assertion criteria provided clinical testing

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.