ClinVar Miner

Submissions for variant NM_017780.4(CHD7):c.5429G>A (p.Arg1810Gln)

gnomAD frequency: 0.00001  dbSNP: rs755632561
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
Ambry Genetics RCV002316745 SCV000850439 uncertain significance Inborn genetic diseases 2017-01-23 criteria provided, single submitter clinical testing The p.R1810Q variant (also known as c.5429G>A), located in coding exon 25 of the CHD7 gene, results from a G to A substitution at nucleotide position 5429. The arginine at codon 1810 is replaced by glutamine, an amino acid with highly similar properties. This amino acid position is highly conserved in available vertebrate species. In addition, this alteration is predicted to be deleterious by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Invitae RCV001323810 SCV001514740 likely benign CHARGE association 2023-05-20 criteria provided, single submitter clinical testing
GeneDx RCV001585677 SCV001819134 likely benign not provided 2019-07-29 criteria provided, single submitter clinical testing In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; Has not been previously published as pathogenic or benign to our knowledge

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.