ClinVar Miner

Submissions for variant NM_002225.5(IVD):c.1184G>A (p.Arg395Gln) (rs1477527791)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 4
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000634868 SCV000756222 pathogenic Isovaleryl-CoA dehydrogenase deficiency 2020-10-19 criteria provided, single submitter clinical testing This sequence change replaces arginine with glutamine at codon 398 of the IVD protein (p.Arg398Gln). The arginine residue is highly conserved and there is a small physicochemical difference between arginine and glutamine. This variant is not present in population databases (ExAC no frequency). This variant has been reported as homozygous or in combination with another IVD variant in several individuals affected with isovaleric acidemia (PMID: 22960500, 24516753, Invitae). This variant is also known as p.Arg395Gln in the literature. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. For these reasons, this variant has been classified as Pathogenic.
Counsyl RCV000634868 SCV000794294 uncertain significance Isovaleryl-CoA dehydrogenase deficiency 2017-10-05 criteria provided, single submitter clinical testing
Department of Genetics,Sultan Qaboos University Hospital, Oman RCV000634868 SCV000891671 pathogenic Isovaleryl-CoA dehydrogenase deficiency 2017-12-30 criteria provided, single submitter clinical testing
Ambry Genetics RCV001265923 SCV001444095 likely pathogenic Inborn genetic diseases 2018-06-07 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.