ClinVar Miner

Submissions for variant NM_003482.4(KMT2D):c.3968dup (p.Gly1323_Arg1324insTer)

dbSNP: rs1592150075
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
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego RCV000853345 SCV000996207 pathogenic Kabuki syndrome 1 2018-10-16 criteria provided, single submitter clinical testing This frameshifting variant in exon 12 of 54 introduces a premature stop codon and is therefore predicted to result in loss of normal protein function. This variant has not been previously reported or functionally characterized in the literature to our knowledge, but loss of function variants are an established mechanism of disease for KMT2D. The variant is absent from the ExAC and gnomAD population databases and thus is presumed to be rare. Analysis of the parental samples was negative for the variant, indicating this variant likely occurred as a de novo event. Based on the available evidence, the c.3968dupG, p.Arg1324Ter variant is 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.