ClinVar Miner

Submissions for variant NM_001271.4(CHD2):c.5069G>A (p.Arg1690Gln)

gnomAD frequency: 0.00004  dbSNP: rs564787975
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
GeneDx RCV000481395 SCV000570308 likely benign not provided 2019-02-11 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV000765250 SCV000896498 uncertain significance Developmental and epileptic encephalopathy 94 2018-10-31 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000765250 SCV001506748 uncertain significance Developmental and epileptic encephalopathy 94 2025-01-06 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with glutamine, which is neutral and polar, at codon 1690 of the CHD2 protein (p.Arg1690Gln). This variant is present in population databases (rs564787975, gnomAD 0.006%). This variant has not been reported in the literature in individuals affected with CHD2-related conditions. ClinVar contains an entry for this variant (Variation ID: 421190). Invitae Evidence Modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) indicates that this missense variant is not expected to disrupt CHD2 protein function with a negative predictive value of 95%. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

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.