IVD
Chr 15isovaleryl-CoA dehydrogenase
Also known as: ACAD2, IVDH
Isovaleryl-CoA dehydrogenase (IVD) is a mitochondrial matrix enzyme that catalyzes the third step in leucine catabolism. The genetic deficiency of IVD results in an accumulation of isovaleric acid, which is toxic to the central nervous system and leads to isovaleric acidemia. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Aug 2017]
Primary Disease Associations & Inheritance
Definitive — sufficient evidence for diagnostic panels
Some data sources returned errors (1)
omim: Error: OMIM fetch failed: 429
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly tolerant — LoF variants common in population
Mild missense constraint
ClinVar Variant Classifications
487 submitted variants in ClinVar
Classification Summary
Curated Variants Distribution
Classified variants from ClinVar · 5 ACMG categories
| Classification | LoF | Missense + Inframe | Non-coding | Synonymous | Total |
|---|---|---|---|---|---|
Pathogenic | 18 | 0 | 13 | 0 | 31 |
Likely Pathogenic | 31 | 23 | 12 | 0 | 66 |
VUS | 0 | 110 | 9 | 0 | 119 |
Likely Benign | 2 | 6 | 113 | 125 | 246 |
Benign | 2 | 3 | 14 | 0 | 19 |
Conflicting | — | 6 | |||
| Total | 53 | 142 | 161 | 125 | 487 |
LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
IVD · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
Gene2Phenotype Curations
IVD-related isovaleric acidemia
definitiveGene2Phenotype curations · DECIPHER consortium patient cohort (public variants) · deciphergenomics.org
OMIM — Genotype-Phenotype
No OMIM entries found.
External Resources
Links to major genomics databases and tools
Variant Interpretation
Population Databases
Gene Resources
Expert Curation
Clinical Trials
Active and recruiting trials from ClinicalTrials.gov
Pivotal, Clinical Study for the Accuracy Evaluation of the IdentiClone Dx TRG Assay
NOT YET RECRUITINGMolecular Diagnostics of Bacterial Infections and Antibiotic Resistance in Blood Samples and Rectal Swabs Using Advanced NGS Sequencing Methods
RECRUITINGPhase 2a Trial to Evaluate Safety and Immunogenicity of COVID-19 Vaccine Strategies in HIV-infected/Uninfected Adults.
ACTIVE NOT RECRUITINGA Study to Evaluate the Safety and Efficacy of A2B395, an Allogeneic Logic-gated CAR T, in Participants With Solid Tumors That Express EGFR and Have Lost HLA-A*02 Expression
RECRUITINGNext Generation Sequencing Method for the Detection of EGFR Gene Mutations in the Plasma of Patients With Lung Cancer
ACTIVE NOT RECRUITINGA Study to Evaluate the Safety and Efficacy of Mesothelin-Targeting Logic-gated CAR T, in Participants With Solid Tumors That Express MSLN and Have Lost HLA-A*02 Expression
RECRUITINGPrecision Oncology Clinical Diagnostic Study In Primary and Metastatic Breast Cancer (PRISM)
RECRUITINGDHF-20-1839-2: Clinical Performance Study Protocol for Therascreen® KRAS RGQ PCR Kit
RECRUITINGExternal Resources
Links to major genomics databases and tools