ClinVar Miner

Submissions for variant NM_002225.5(IVD):c.744dup (p.Asn249Ter)

dbSNP: rs1057516769
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
Counsyl RCV000408999 SCV000486195 likely pathogenic Isovaleryl-CoA dehydrogenase deficiency 2016-04-13 criteria provided, single submitter clinical testing
Invitae RCV000408999 SCV004461930 pathogenic Isovaleryl-CoA dehydrogenase deficiency 2023-11-29 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Asn252*) in the IVD gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in IVD are known to be pathogenic (PMID: 16602101). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with IVD-related conditions. ClinVar contains an entry for this variant (Variation ID: 370789). For these reasons, this variant has been 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.