ClinVar Miner

Submissions for variant NM_014762.4(DHCR24):c.1438G>A (p.Glu480Lys)

gnomAD frequency: 0.00001  dbSNP: rs387906940
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
GeneDx RCV002255120 SCV002526627 likely pathogenic not provided 2021-12-16 criteria provided, single submitter clinical testing Published functional studies demonstrate this variant results in significantly decreased enzymatic activity (Schaaf et al., 2011); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 25525159, 25122065, 24095826, 21671375)
OMIM RCV000023541 SCV000044832 pathogenic Desmosterolosis 2011-07-01 no assertion criteria provided literature only

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.