ClinVar Miner

Submissions for variant NM_001170629.2(CHD8):c.2345del (p.His782fs) (rs886039692)

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 RCV000255911 SCV000322637 pathogenic not provided 2016-08-05 criteria provided, single submitter clinical testing The c.2345delA pathogenic variant in the CHD8 gene causes a frameshift starting with codon Histidine 782, changes this amino acid to a Proline residue and creates a premature Stop codon at position 7 of the new reading frame, denoted p.H782PfsX7. This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. It was not observed in approximately 5,900 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations.
GenomeConnect - Simons Searchlight RCV001265459 SCV001443591 pathogenic Autism spectrum disorder 2018-06-22 no assertion criteria provided provider interpretation Submission from Simons Searchlight facilitated by GenomeConnect. Variant interpreted by the Simons Searchlight team most recently on 2018-06-22 and interpreted as Pathogenic. Variant was initially reported on 2016-08-22 by GTR ID of laboratory name 26957. The reporting laboratory might also submit to ClinVar.

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.