ClinVar Miner

Submissions for variant NM_024757.5(EHMT1):c.2382+1G>A

dbSNP: rs2136894487
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
Neuberg Centre For Genomic Medicine, NCGM RCV001823438 SCV002072874 likely pathogenic Kleefstra syndrome 1 criteria provided, single submitter clinical testing The splice donor variant c.2382+1G>A in EHMT1 (NM_024757.5) has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. The c.2382+1G>A variant is novel (not in any individuals) in gnomAD Exomes and is novel (not in any individuals) in 1000 Genomes. The variant affects an invariant splice nuceotide and hence is predicted to cause loss of function. Loss of function variant have been previously reported to be disease causing. For these reasons, this variant has been classified as Likely 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.