ClinVar Miner

Submissions for variant NM_005691.3(ABCC9):c.1012-1G>C (rs878854781)

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
Invitae RCV000227165 SCV000288977 uncertain significance Dilated cardiomyopathy 1O 2016-03-11 criteria provided, single submitter clinical testing This sequence change affects an acceptor splice site in intron 6 of ABCC9. It is expected to disrupt mRNA splicing and likely results in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency) and has not been reported in the literature in individuals with a ABCC9-related disease. Although donor and acceptor splice site variants are typically truncating (PMID: 16199547), these are not necessarily pathogenic in the ABCC9 gene, for which a loss of function mechanism of disease has not been established. In the absence of further supportive evidence, this variant 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.