ClinVar Miner

Submissions for variant NM_014727.3(KMT2B):c.7810T>C (p.Tyr2604His)

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
University of Washington Department of Laboratory Medicine, University of Washington RCV005255949 SCV005908266 uncertain significance Dystonia 28, childhood-onset; Intellectual developmental disorder, autosomal dominant 68 2022-07-12 criteria provided, single submitter clinical testing The p.Tyr2604His variant in the KMT2B gene was identified de novo in this individual, but has not been previously reported in association with disease. This variant was absent from large population databases, including the Genome Aggregation Database (http://gnomad.broadinstitute.org/). The p.Tyr2604His variant is located in the SET-binding domain of the KMT2B protein. Other disease associated missense variants have been described in this domain (Cif 2020). The KMT2B gene has fewer missense variants in the general population than expected. A low rate of missense variation may suggest that this gene is intolerant to missense variation. In silico tools predict that the p.Tyr2604His is deleterious; however, these predictions have not been tested directly. Using ACMG guidelines, this variant was classified as a variant of uncertain significance (ACMG evidence codes used: PS2_supporting, PM1_supporting, PM2_supporting, PP2, PP3).

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.