ClinVar Miner

Submissions for variant NM_000214.3(JAG1):c.27G>C (p.Arg9=)

gnomAD frequency: 0.00004  dbSNP: rs766143399
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
Labcorp Genetics (formerly Invitae), Labcorp RCV002107585 SCV002396744 likely benign Alagille syndrome due to a JAG1 point mutation 2022-10-13 criteria provided, single submitter clinical testing
Ambry Genetics RCV002434486 SCV002745769 likely benign Cardiovascular phenotype 2018-01-16 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.

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.