ClinVar Miner

Submissions for variant NM_002225.5(IVD):c.599del (p.Pro200fs) (rs1566936542)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 3
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genomic Research Center, Shahid Beheshti University of Medical Sciences RCV000714868 SCV000845613 likely pathogenic Isovaleryl-CoA dehydrogenase deficiency 2018-08-07 criteria provided, single submitter clinical testing
Baylor Genetics RCV000714868 SCV001163385 likely pathogenic Isovaleryl-CoA dehydrogenase deficiency criteria provided, single submitter clinical testing
Invitae RCV000714868 SCV001407796 pathogenic Isovaleryl-CoA dehydrogenase deficiency 2019-10-01 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Pro203Leufs*6) in the IVD gene. It is expected to result in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with IVD-related conditions. ClinVar contains an entry for this variant (Variation ID: 587624). Loss-of-function variants in IVD are known to be pathogenic (PMID: 16602101). 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.