ClinVar Miner

Submissions for variant NM_005691.3(ABCC9):c.2080C>T (p.Arg694Ter) (rs1194330942)

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 RCV000519602 SCV000620390 uncertain significance not provided 2017-09-05 criteria provided, single submitter clinical testing A variant of uncertain significance has been identified in the ABCC9 gene. The R694X variant has not been published as pathogenic or been reported as benign to our knowledge. This variant is not observed in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). The R694X variant is predicted to cause loss of normal protein function by protein truncation. However, in the Human Genome Mutation Database few truncating variants have been reported in the ABCC9 gene and the majority of reported pathogenic variants in the ABCC9 gene are missense changes, suggesting that haploinsufficiency may not be the primary mechanism for disease in this gene (Stenson et al., 2014).

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.