ClinVar Miner

Submissions for variant NM_005691.3(ABCC9):c.2198+6T>C (rs1057522523)

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 RCV000418674 SCV000528245 uncertain significance not provided 2016-05-23 criteria provided, single submitter clinical testing A variant of uncertain significance has been identified in the ABCC9 gene. The c.2198+6 T>C variant has not beenpublished as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. The c.2198+6 T>Cvariant was not observed in approximately 6,500 individuals of European and African American ancestry in theNHLBI Exome Sequencing Project. In silico splice prediction programs predict this variant results in the loss/reducedefficiency of the splice donor site in intron 16 of the ABCC9 gene. However, in the absence of functional mRNAstudies, the physiological consequence of this variant cannot be precisely determined. Moreover, no other splice sitevariants in the ABCC9 gene have been reported in HGMD in association with cardiac abnormalities (Stenson et al.,2014).Therefore, based on the currently available information, it is unclear whether this variant is pathogenic or rare benign.

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.