ClinVar Miner

Submissions for variant NM_017780.4(CHD7):c.6287A>G (p.His2096Arg)

dbSNP: rs587783451
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 3
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000145684 SCV000192790 likely pathogenic CHARGE association 2013-02-08 criteria provided, single submitter clinical testing
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia RCV000145684 SCV000328346 likely pathogenic CHARGE association 2016-09-05 criteria provided, single submitter clinical testing
Invitae RCV000145684 SCV004324322 pathogenic CHARGE association 2023-09-27 criteria provided, single submitter clinical testing This missense change has been observed in individual(s) with CHARGE syndrome (PMID: 16400610). In at least one individual the variant was observed to be de novo. This sequence change replaces histidine, which is basic and polar, with arginine, which is basic and polar, at codon 2096 of the CHD7 protein (p.His2096Arg). This variant is not present in population databases (gnomAD no frequency). ClinVar contains an entry for this variant (Variation ID: 158309). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is expected to disrupt CHD7 protein function. Experimental studies have shown that this missense change affects CHD7 function (PMID: 20453063). For these reasons, this variant has been classified as Pathogenic.

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.