ClinVar Miner

Submissions for variant NM_001110792.2(MECP2):c.6_8CGC[8] (p.Ala7_Ala8dup) (rs398123566)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 6
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000144801 SCV000191027 uncertain significance not provided 2013-07-17 criteria provided, single submitter clinical testing The c.23_24insCGCCGC (aka c.18_23dupCGCCGC) variant results in the duplication of two amino acid residues in a poorly conserved region of the MECP2_e1 transcript. This variant has been reported as a benign polymorphism because it was identified in a female with Rett syndrome and her unaffected mother in one family and did not cosegregate with intellectual disability in another family (Evans et al., 2005; Quenard et al., 2006). However, in another study variations in the number of Alanine or Glycine repeats in this region of the protein were found in approximately 1% of females with intellectual disability but a significantly smaller percentage of controls, so the authors suggested these variants may be associated with an increased risk for intellectual disability (Harvey et al., 2007). Internal exome population data indicates this variant has been seen in 2 unaffected males. The variant is found in CHILD-EPI panel(s).
Invitae RCV000645135 SCV000766877 benign Severe neonatal-onset encephalopathy with microcephaly 2019-12-31 criteria provided, single submitter clinical testing
Genomic Research Center, Shahid Beheshti University of Medical Sciences RCV000714629 SCV000845341 uncertain significance Rett syndrome 2018-08-07 criteria provided, single submitter clinical testing
Genomic Research Center, Shahid Beheshti University of Medical Sciences RCV000645135 SCV000845342 uncertain significance Severe neonatal-onset encephalopathy with microcephaly 2018-08-07 criteria provided, single submitter clinical testing
Centre for Mendelian Genomics,University Medical Centre Ljubljana RCV001198685 SCV001369680 benign Clubfoot; Hypoplasia of the corpus callosum; Premature birth; Generalized hypotonia; Small for gestational age; Talipes calcaneovalgus; High, narrow palate; Decreased body weight 2018-09-25 criteria provided, single submitter clinical testing This variant was classified as: Uncertain significance. The available evidence favors the pathogenic nature of this variant, however the currently available data is insufficient to conclusively support its pathogenic nature. Thus this variant is classified as Uncertain significance - favor pathogenic. The following ACMG criteria were applied in classifying this variant: PM2,PM5,PP3. This variant was detected in heterozygous state.
RettBASE RCV000170278 SCV000222610 benign not specified 2013-06-12 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.