ACADVL

Chr 17

acyl-CoA dehydrogenase very long chain

Also known as: ACAD6, LCACD, VLCAD

NCBI Gene: 37ENSG00000072778UniProt: P49748

The protein encoded by this gene is targeted to the inner mitochondrial membrane where it catalyzes the first step of the mitochondrial fatty acid beta-oxidation pathway. This acyl-Coenzyme A dehydrogenase is specific to long-chain and very-long-chain fatty acids. A deficiency in this gene product reduces myocardial fatty acid beta-oxidation and is associated with cardiomyopathy. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]

GeneReviewsResearchGenerating clinical summary…
LOFmechanismLOEUF 1.05
Clinical Summary— ACADVL
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Gene-Disease Validity (ClinGen)
very long chain acyl-CoA dehydrogenase deficiency · ARDefinitive

Definitive — sufficient evidence for diagnostic panels

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Population Constraint (gnomAD)
Low constraint (pLI 0.00) — loss-of-function variants are relatively tolerated in the population.
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ClinVar Variants
520 unique Pathogenic / Likely Pathogenic· 643 VUS of 2167 total submissions
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Clinical Trials
1 active or recruiting trial — potential therapeutic options may be available
Explore recent and relevant literature in Research Assistant →
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GeneReview available — ACADVL
Authoritative clinical overview · Recommended first read
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Some data sources returned errors (1)

omim: Error: OMIM fetch failed: 429

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint?
1.05LOEUF
pLI 0.000
Z-score 1.32
OE 0.76 (0.56–1.05)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
-0.21Z-score
OE missense 1.03 (0.95–1.12)
390 obs / 378.5 exp
Tolerant

Tolerant to missense variation

Observed / Expected Ratios?
LoF OE?0.76 (0.56–1.05)
0≤0.351.4
Missense OE?1.03 (0.95–1.12)
0≤0.61.4
Synonymous OE?1.18
0≤1.21.6
LoF obs/exp: 27 / 35.5Missense obs/exp: 390 / 378.5Syn Z: -1.74
Curated Mechanism (G2P)Gene2Phenotype (DDG2P) ↗
definitiveACADVL-related very long chain acyl-CoA dehydrogenase deficiencyLOFAR

This gene — mechanism propensity

Predictions shown for reference only — model trained on dominant genes, not applicable to AR conditions.

DN
0.6937th %ile
GOF
0.6442th %ile
LOF
0.3066th %ile

The Badonyi & Marsh prediction model was trained exclusively on dominant disease genes. Predictions are not reliable for genes with autosomal recessive inheritance and are shown at reduced opacity for reference only.

Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312.

ClinVar Variant Classifications

2167 submitted variants in ClinVar

ClinVar

Classification Summary

Pathogenic143
Likely Pathogenic377
VUS643
Likely Benign809
Benign41
Conflicting135
143
Pathogenic
377
Likely Pathogenic
643
VUS
809
Likely Benign
41
Benign
135
Conflicting

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

ClassificationLoFMissense + InframeNon-codingSynonymousTotal
Pathogenic
115
24
3
1
143
Likely Pathogenic
227
139
9
2
377
VUS
29
518
73
23
643
Likely Benign
0
2
430
377
809
Benign
0
6
31
4
41
Conflicting
—135
Total3716895464072,148

LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly

View in ClinVar →

31 pathogenic / likely-pathogenic (of 45) ClinVar copy-number / structural variants overlap ACADVL — these span large chromosomal regions, not the gene specifically, and are excluded from the counts above. Explore in CNV tools →

Protein Context — Lollipop Plot

ACADVL · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.

External Resources

Links to major genomics databases and tools

Franklin by Genoox
AI-powered variant curation and clinical analysis
DECIPHER
Genomic variants and phenotypes in rare disease patients