ClinVar Miner

Submissions for variant NM_006618.5(KDM5B):c.1559A>G (p.Tyr520Cys)

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 RCV005255906 SCV005908200 uncertain significance Intellectual disability, autosomal recessive 65 2023-11-02 criteria provided, single submitter clinical testing The p.Tyr520Cys variant in the KDM5B gene has not been previously reported in association with disease, but was determined to be in trans with a likely pathogenic variant (c.2016+1G>A) in this individual, consistent with autosomal recessive inheritance. The presence of this variant with a likely disease-causing variant on the opposite allele increases suspicion for its pathogenicity. This variant has been identified in 2/1461060 chromosomes by the Genome Aggregation Database (http://gnomad.broadinstitute.org/). Although this variant has been seen in the general population, its frequency is low enough to be consistent with a recessive carrier frequency. In silico tools predict that this variant 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: PM3_supporting, PM2_supporting, 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.