ClinVar Miner

Submissions for variant NM_001271.3(CHD2):c.2095C>T (p.Arg699Trp) (rs1131691515)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 5
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000623592 SCV000741687 uncertain significance Inborn genetic diseases 2016-11-07 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: UNCERTAIN: Alteration(s) of Uncertain Clinical Significance Detected
Ambry Genetics RCV000716678 SCV000847520 uncertain significance History of neurodevelopmental disorder 2016-08-11 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Insufficient evidence
GeneDx RCV000493748 SCV000582278 likely pathogenic not provided 2015-09-26 criteria provided, single submitter clinical testing The R699W variant in the CHD2 gene has not been published as a pathogenic variant, nor has it been reported as a benign polymorphism to our knowledge. The R699W variant was not observed in approximately 6500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. The R699W variant is a non-conservative amino acid substitution, which is likely to impact secondary protein structure as these residues differ in polarity, charge, size and/or other properties. This substitution occurs at a position that is conserved across species and in silico analysis predicts this variant is probably damaging to the protein structure/function. The R699W variant is a strong candidate for a disease-causing variant, however the possibility it may be a rare benign variant cannot be excluded.
Laboratoire de Cytogenetique,Hospices Civils de Lyon RCV000505237 SCV000890059 likely pathogenic Epileptic encephalopathy, childhood-onset 2017-07-12 criteria provided, single submitter clinical testing
Molecular Genetics Laboratory,BC Children's and BC Women's Hospitals RCV000505237 SCV000599251 likely pathogenic Epileptic encephalopathy, childhood-onset 2016-09-30 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.