ClinVar Miner

Submissions for variant NM_002225.5(IVD):c.1183C>T (p.Arg395Ter) (rs398123681)

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
Invitae RCV000692024 SCV000819831 likely pathogenic Isovaleryl-CoA dehydrogenase deficiency 2019-10-22 criteria provided, single submitter clinical testing This sequence change results in a premature translational stop signal in the IVD gene (p.Arg398*). While this is not anticipated to result in nonsense mediated decay, it is expected to delete the last 29 amino acids of the IVD protein. This variant is present in population databases (rs398123681, ExAC 0.02%). This variant has not been reported in the literature in individuals with IVD-related disease. ClinVar contains an entry for this variant (Variation ID: 571005). Two missense substitutions (p.Arg398Gln, p.Ile405Thr) that lie at this codon or downstream of it have been determined to be likely pathogenic (PMID: 22960500, 24516753, Invitae). This suggests that deletion of this region of the IVD protein is causative of disease. In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic.
Baylor Genetics RCV000692024 SCV001163391 pathogenic Isovaleryl-CoA dehydrogenase deficiency criteria provided, single submitter clinical testing
Knight Diagnostic Laboratories, Oregon Health and Sciences University RCV000692024 SCV001448849 likely pathogenic Isovaleryl-CoA dehydrogenase deficiency 2018-12-17 criteria provided, single submitter clinical testing

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.