ClinVar Miner

Submissions for variant NM_000214.3(JAG1):c.626A>G (p.His209Arg)

dbSNP: rs863223679
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 1
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000197516 SCV000250494 uncertain significance not specified 2015-05-26 criteria provided, single submitter clinical testing The H209R variant in the JAG1 gene has not been published as a mutation, nor has it been reported as a benign polymorphism to our knowledge. The H209R 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 H209R variant is a conservative amino acid substitution, which is not likely to impact secondary protein structure as these residues share similar properties. This substitution occurs at a position that is conserved across species. In silico analysis predicts this variant is probably damaging to the protein structure/function. This variant was found in HG19-EXOME-

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.