ClinVar Miner

Submissions for variant NM_002225.5(IVD):c.349C>T (p.Arg117Ter)

gnomAD frequency: 0.00001  dbSNP: rs776015412
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 8
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000666222 SCV000790479 likely pathogenic Isovaleryl-CoA dehydrogenase deficiency 2017-04-05 criteria provided, single submitter clinical testing
Invitae RCV000666222 SCV001581114 pathogenic Isovaleryl-CoA dehydrogenase deficiency 2023-09-12 criteria provided, single submitter clinical testing This premature translational stop signal has been observed in individual(s) with isovaleric acidemia (PMID: 27629047). This variant is present in population databases (rs776015412, gnomAD 0.004%). This sequence change creates a premature translational stop signal (p.Arg120*) 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). ClinVar contains an entry for this variant (Variation ID: 551222). For these reasons, this variant has been classified as Pathogenic.
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center RCV000666222 SCV002061459 pathogenic Isovaleryl-CoA dehydrogenase deficiency 2021-06-02 criteria provided, single submitter clinical testing PVS1, PM2, PS4_Supporting
Baylor Genetics RCV000666222 SCV004198001 pathogenic Isovaleryl-CoA dehydrogenase deficiency 2023-10-21 criteria provided, single submitter clinical testing
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center RCV000666222 SCV004807688 pathogenic Isovaleryl-CoA dehydrogenase deficiency 2024-03-29 criteria provided, single submitter clinical testing
Laboratory of Medical Genetics, National & Kapodistrian University of Athens RCV000666222 SCV005051840 pathogenic Isovaleryl-CoA dehydrogenase deficiency 2024-02-01 criteria provided, single submitter curation
GeneDx RCV004588091 SCV005079699 pathogenic not provided 2024-02-14 criteria provided, single submitter clinical testing Nonsense variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss of function is a known mechanism of disease; Not observed at significant frequency in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 27629047)
Natera, Inc. RCV000666222 SCV002094393 pathogenic Isovaleryl-CoA dehydrogenase deficiency 2020-06-16 no assertion criteria provided 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.