ClinVar Miner

Submissions for variant NM_003482.3(KMT2D):c.4395dup (p.Lys1466fs) (rs1555195118)

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
Center for Human Genetics, Inc,Center for Human Genetics, Inc RCV000659718 SCV000781566 likely pathogenic Kabuki syndrome 1 2016-11-01 criteria provided, single submitter clinical testing
Invitae RCV001233752 SCV001406361 pathogenic Kabuki syndrome 2019-07-19 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Lys1466Glnfs*25) in the KMT2D gene. It is expected to result in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has been observed in an individual with clinical features of Kabuki syndrome (PMID: 25896430). ClinVar contains an entry for this variant (Variation ID: 547421). Loss-of-function variants in KMT2D are known to be pathogenic (PMID: 22126750). For these reasons, this variant has been classified as Pathogenic.

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.