ClinVar Miner

Submissions for variant NM_001291415.2(KDM6A):c.4161+5_4161+8del

dbSNP: rs886041946
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 RCV000374180 SCV000330756 pathogenic not provided 2016-08-29 criteria provided, single submitter clinical testing The c.4005+5_4005+8delGTAA variant in the KDM6A gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. This deletion changes the downstream intronic sequence including the conserved +5 position which results in the loss of the natural splice donor site in intron 27. This deletion is expected to cause abnormal gene splicing. The c.4005+5_4005+8delGTAA variant was not observed in approximately 6,500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. We interpret c.4005+5_4005+8delGTAA as a pathogenic variant.

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.