ClinVar Miner

Submissions for variant NM_003482.4(KMT2D):c.11422del (p.Ala3808fs)

dbSNP: rs1555188704
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
Invitae RCV000638429 SCV000759944 pathogenic Kabuki syndrome 2017-11-27 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in KMT2D are known to be pathogenic (PMID: 22126750). This variant has not been reported in the literature in individuals with KMT2D-related disease. This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Ala3808Leufs*22) in the KMT2D gene. It is expected to result in an absent or disrupted protein product.
Center for Human Genetics, Inc, Center for Human Genetics, Inc RCV000659787 SCV000781640 likely pathogenic Kabuki syndrome 1 2016-11-01 criteria provided, single submitter clinical testing

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.