ClinVar Miner

Submissions for variant NM_001110792.2(MECP2):c.844del (p.Arg282fs) (rs62931162)

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
Center for Human Genetics, Inc,Center for Human Genetics, Inc RCV000168692 SCV000781708 pathogenic Rett syndrome 2016-11-01 criteria provided, single submitter clinical testing
GeneDx RCV001008096 SCV001167842 pathogenic not provided 2019-01-21 criteria provided, single submitter clinical testing The c.808delC pathogenic variant (reported as c.882delC, c.807delC, c.803delC or c.808delC in the literature) in the MECP2 gene has been reported previously in females with atypical or classic Rett syndrome (Obata et al., 2000; Buyse et al. 2000; Conforti et al, 2003; Kammoun et al., 20040; Fukuda et al., 2005). The c.808delC variant has also been reported in males with a severe neurological phenotype (Kankirawatana et al., 2006; Venancio et al., 2007). This variant has been typically observed in the de novo state in affected individuals, however, it has been reported in a female with classic Rett syndrome and her brother with severe growth retardation, developmental delay, and hypotonia, with presumed germline mosaicism in their mother (Venancio et al, 2007). The c.808delC variant causes a frameshift starting with codon Arginine 270, changes this amino acid to a Glutamate residue and creates a premature Stop codon at position 19 of the new reading frame, denoted p.Arg270GlufsX19. The c.808delC variant is not observed in large population cohorts (Lek et al., 2016). Therefore, the presence of c.808delC is consistent with the diagnosis of a MECP2-related disorder in this individual.
RettBASE RCV000133243 SCV000188247 pathogenic Severe neonatal-onset encephalopathy with microcephaly 2010-08-24 no assertion criteria provided curation
RettBASE RCV000168692 SCV000222440 pathogenic Rett syndrome 2010-08-24 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.