Very long chain acyl-CoA dehydrogenase deficiency: genes and variants
Very long chain acyl-CoA dehydrogenase deficiency is linked to 1 analyzed protein (ACADVL). 149 DNA variants are known to cause it; 501 more are uncertain, and 46 of those already look disease-causing on computable evidence.
Last updated 2026-09-30. Research information, not medical advice.
Genes linked to Very long chain acyl-CoA dehydrogenase deficiency
ACADVL: Very long-chain acyl-CoA dehydrogenase, mitochondrial
It catalyzes the first dehydrogenation step in mitochondrial beta-oxidation of long-chain fatty acids, especially during fasting and sustained energy demand. Biallelic loss of function causes very-long-chain acyl-CoA dehydrogenase deficiency, ranging from severe cardiomyopathy to exercise-induced rhabdomyolysis.
149 disease-causing and 501 uncertain variants in ACADVL are linked to Very long chain acyl-CoA dehydrogenase deficiency.
Known disease-causing variants in Very long chain acyl-CoA dehydrogenase deficiency
| Variant | Position | Protein part | Clinical label |
|---|---|---|---|
| ACADVL N122D | 122 | Catalytic | Disease-causing (★★★) |
| ACADVL L172P | 172 | Catalytic | Disease-causing (★★★) |
| ACADVL L202P | 202 | Catalytic | Disease-causing (★★★) |
| ACADVL A213P | 213 | Catalytic | Disease-causing (★★★) |
| ACADVL G222R | 222 | Catalytic | Disease-causing (★★★) |
| ACADVL M443R | 443 | Catalytic | Disease-causing (★★★) |
| ACADVL G185S | 185 | Catalytic | Disease-causing (★★★) |
| ACADVL Y201C | 201 | Catalytic | Disease-causing (★★★) |
| ACADVL A213T | 213 | Catalytic | Disease-causing (★★★) |
| ACADVL R366H | 366 | Catalytic | Disease-causing (★★★) |
| ACADVL R366C | 366 | Catalytic | Disease-causing (★★★) |
| ACADVL G438E | 438 | Catalytic | Disease-causing (★★★) |
| ACADVL R450H | 450 | Catalytic | Disease-causing (★★★) |
| ACADVL R459Q | 459 | Catalytic | Disease-causing (★★★) |
| ACADVL R459W | 459 | Catalytic | Disease-causing (★★★) |
| ACADVL R469Q | 469 | Catalytic | Disease-causing (★★★) |
| ACADVL R469W | 469 | Catalytic | Disease-causing (★★★) |
| ACADVL A490P | 490 | Membrane-anchoring | Disease-causing (★★★) |
| ACADVL A513P | 513 | Membrane-anchoring | Disease-causing (★★★) |
| ACADVL C215R | 215 | Catalytic | Disease-causing (★★★) |
| ACADVL E218K | 218 | Catalytic | Disease-causing (★★★) |
| ACADVL S251G | 251 | Catalytic | Disease-causing (★★★) |
| ACADVL V261A | 261 | Catalytic | Disease-causing (★★★) |
| ACADVL K299M | 299 | Catalytic | Disease-causing (★★★) |
| ACADVL P318L | 318 | Catalytic | Disease-causing (★★★) |
| ACADVL K382Q | 382 | Catalytic | Disease-causing (★★★) |
| ACADVL F458L | 458 | Catalytic | Disease-causing (★★★) |
| ACADVL R613W | 613 | Disease-causing (★★★) | |
| ACADVL G140E | 140 | Catalytic | Disease-causing (★★★) |
| ACADVL A180T | 180 | Catalytic | Disease-causing (★★★) |
| ACADVL T260M | 260 | Catalytic | Disease-causing (★★★) |
| ACADVL K264E | 264 | Catalytic | Disease-causing (★★★) |
| ACADVL V283A | 283 | Catalytic | Disease-causing (★★★) |
| ACADVL G289R | 289 | Catalytic | Disease-causing (★★★) |
| ACADVL G407A | 407 | Catalytic | Disease-causing (★★★) |
| ACADVL A416T | 416 | Catalytic | Disease-causing (★★★) |
| ACADVL G441D | 441 | Catalytic | Disease-causing (★★★) |
| ACADVL R453Q | 453 | Catalytic | Disease-causing (★★★) |
| ACADVL R456H | 456 | Catalytic | Disease-causing (★★★) |
| ACADVL G463E | 463 | Catalytic | Disease-causing (★★★) |
| ACADVL S207P | 207 | Catalytic | Disease-causing (★★★) |
| ACADVL R511Q | 511 | Membrane-anchoring | Disease-causing (★★★) |
| ACADVL R385W | 385 | Catalytic | Disease-causing (★★★) |
| ACADVL P89S | 89 | Catalytic | Disease-causing (★★★) |
| ACADVL G486E | 486 | Membrane-anchoring | Disease-causing (★★★) |
| ACADVL P296L | 296 | Catalytic | Disease-causing (★★★) |
| ACADVL M478I | 478 | Catalytic | Disease-causing (★★★) |
| ACADVL L202V | 202 | Catalytic | Disease-causing (★★) |
| ACADVL R286G | 286 | Catalytic | Disease-causing (★★) |
| ACADVL R366G | 366 | Catalytic | Disease-causing (★★) |
| ACADVL M443T | 443 | Catalytic | Disease-causing (★★) |
| ACADVL G439C | 439 | Catalytic | Disease-causing (★★) |
| ACADVL R459G | 459 | Catalytic | Disease-causing (★★) |
| ACADVL G179W | 179 | Catalytic | Disease-causing (★★) |
| ACADVL I413T | 413 | Catalytic | Disease-causing (★★) |
| ACADVL A415V | 415 | Catalytic | Disease-causing (★★) |
| ACADVL M437T | 437 | Catalytic | Disease-causing (★★) |
| ACADVL F471L | 471 | Catalytic | Disease-causing (★★) |
| ACADVL A490V | 490 | Membrane-anchoring | Disease-causing (★★) |
| ACADVL A513V | 513 | Membrane-anchoring | Disease-causing (★★) |
Showing 60 of 149.
Uncertain variants in Very long chain acyl-CoA dehydrogenase deficiency that look disease-causing
| Variant | Position | Protein part | Clinical label | Evidence |
|---|---|---|---|---|
| ACADVL G441S | 441 | Catalytic | Conflicting reports (★) | +7: 10 other pathogenic changes within 3 positions; G441D at the same position is pathogenic; seen in 6.8e-07 of gnomAD DNA copies; REVEL 0.989 |
| ACADVL G179R | 179 | Catalytic | Conflicting reports (★) | +7: 2 other pathogenic changes within 3 positions; G179W at the same position is pathogenic; seen in 6.8e-07 of gnomAD DNA copies; REVEL 0.974 |
| ACADVL P318S | 318 | Catalytic | Conflicting reports (★) | +7: P318L at the same position is pathogenic; seen in 8.2e-06 of gnomAD DNA copies; REVEL 0.946 |
| ACADVL G441A | 441 | Catalytic | Conflicting reports (★) | +7: 10 other pathogenic changes within 3 positions; G441D at the same position is pathogenic; seen in 6.8e-07 of gnomAD DNA copies; REVEL 0.942 |
| ACADVL F369C | 369 | Catalytic | Conflicting reports (★) | +7: 6 other pathogenic changes within 3 positions; F369S at the same position is pathogenic; seen in 2e-06 of gnomAD DNA copies; REVEL 0.958 |
| ACADVL R459P | 459 | Catalytic | Conflicting reports (★) | +7: 5 other pathogenic changes within 3 positions; R459G at the same position is pathogenic; seen in 6.6e-06 of gnomAD DNA copies; REVEL 0.898 |
| ACADVL G80A | 80 | Catalytic | Conflicting reports (★) | +7: 2 other pathogenic changes within 3 positions; G80R at the same position is pathogenic; seen in 6.6e-06 of gnomAD DNA copies; REVEL 0.861 |
| ACADVL M300R | 300 | Catalytic | Conflicting reports (★) | +7: 3 other pathogenic changes within 3 positions; M300I at the same position is pathogenic; seen in 6.6e-06 of gnomAD DNA copies; REVEL 0.952 |
| ACADVL M300V | 300 | Catalytic | Conflicting reports (★) | +7: 3 other pathogenic changes within 3 positions; M300I at the same position is pathogenic; seen in 6.8e-07 of gnomAD DNA copies; REVEL 0.948 |
| ACADVL G175D | 175 | Catalytic | Conflicting reports (★) | +7: 4 other pathogenic changes within 3 positions; G175S at the same position is pathogenic; seen in 6.8e-07 of gnomAD DNA copies; REVEL 0.920 |
| ACADVL K382N | 382 | Catalytic | Conflicting reports (★) | +7: 2 other pathogenic changes within 3 positions; K382Q at the same position is pathogenic; seen in 6.6e-06 of gnomAD DNA copies; REVEL 0.911 |
| ACADVL G350D | 350 | Catalytic | Uncertain (★) | +7: 3 other pathogenic changes within 3 positions; G350V at the same position is pathogenic; seen in 6.6e-06 of gnomAD DNA copies; REVEL 0.978 |
| ACADVL G350S | 350 | Catalytic | Uncertain (★★) | +7: 3 other pathogenic changes within 3 positions; G350V at the same position is pathogenic; seen in 3.4e-06 of gnomAD DNA copies; REVEL 0.977 |
| ACADVL G301S | 301 | Catalytic | Uncertain (★) | +7: 3 other pathogenic changes within 3 positions; G301D at the same position is pathogenic; seen in 6.6e-06 of gnomAD DNA copies; REVEL 0.936 |
| ACADVL K299N | 299 | Catalytic | Uncertain (★) | +7: 4 other pathogenic changes within 3 positions; K299M at the same position is pathogenic; seen in 2e-06 of gnomAD DNA copies; REVEL 0.859 |
| ACADVL D361G | 361 | Catalytic | Uncertain (★) | +7: 2 other pathogenic changes within 3 positions; D361Y at the same position is pathogenic; seen in 6.9e-07 of gnomAD DNA copies; REVEL 0.797 |
| ACADVL P219A | 219 | Catalytic | Uncertain (★) | +7: 7 other pathogenic changes within 3 positions; P219L at the same position is pathogenic; seen in 2e-06 of gnomAD DNA copies; REVEL 0.860 |
| ACADVL F113L | 113 | Catalytic | Uncertain (★★★) | +7: 2 other pathogenic changes within 3 positions; F113I at the same position is pathogenic; seen in 6.8e-07 of gnomAD DNA copies; REVEL 0.803 |
| ACADVL G208E | 208 | Catalytic | Conflicting reports (★) | +6: 2 other pathogenic changes within 3 positions; G208R at the same position is pathogenic; not seen in the gnomAD population database; AlphaMissense 0.93 |
| ACADVL L202H | 202 | Catalytic | Conflicting reports (★) | +6: 5 other pathogenic changes within 3 positions; L202P at the same position is pathogenic; not seen in the gnomAD population database; AlphaMissense 0.99 |
| ACADVL R456P | 456 | Catalytic | Conflicting reports (★) | +6: 6 other pathogenic changes within 3 positions; R456H at the same position is pathogenic; not seen in the gnomAD population database; AlphaMissense 0.85 |
| ACADVL A213V | 213 | Catalytic | Conflicting reports (★) | +6: 3 other pathogenic changes within 3 positions; A213P at the same position is pathogenic; not seen in the gnomAD population database; AlphaMissense 0.85 |
| ACADVL G439D | 439 | Catalytic | Conflicting reports (★) | +6: 9 other pathogenic changes within 3 positions; G439C at the same position is pathogenic; REVEL 0.964 |
| ACADVL A416S | 416 | Catalytic | Conflicting reports (★) | +6: 4 other pathogenic changes within 3 positions; A416T at the same position is pathogenic; REVEL 0.933 |
| ACADVL E285Q | 285 | Catalytic | Conflicting reports (★) | +6: 4 other pathogenic changes within 3 positions; E285V at the same position is pathogenic; REVEL 0.919 |
| ACADVL C215S | 215 | Catalytic | Conflicting reports (★) | +6: 4 other pathogenic changes within 3 positions; C215R at the same position is pathogenic; REVEL 0.917 |
| ACADVL G254S | 254 | Catalytic | Conflicting reports (★) | +6: 2 other pathogenic changes within 3 positions; G254D at the same position is pathogenic; REVEL 0.866 |
| ACADVL C215Y | 215 | Catalytic | Conflicting reports (★) | +6: 4 other pathogenic changes within 3 positions; C215R at the same position is pathogenic; not seen in the gnomAD population database; AlphaMissense 0.71 |
| ACADVL R456C | 456 | Catalytic | Conflicting reports (★) | +6: 6 other pathogenic changes within 3 positions; R456H at the same position is pathogenic; REVEL 0.885 |
| ACADVL A161T | 161 | Catalytic | Conflicting reports (★) | +6: 5 other pathogenic changes within 3 positions; A161D at the same position is pathogenic; REVEL 0.773 |
| ACADVL V164G | 164 | Catalytic | Conflicting reports (★) | +6: 5 other pathogenic changes within 3 positions; V164M at the same position is pathogenic; seen in 1.4e-06 of gnomAD DNA copies; REVEL 0.705 |
| ACADVL R453P | 453 | Catalytic | Uncertain (★) | +6: 4 other pathogenic changes within 3 positions; R453Q at the same position is pathogenic; not seen in the gnomAD population database; AlphaMissense 1.00 |
| ACADVL G350A | 350 | Catalytic | Uncertain (★) | +6: 3 other pathogenic changes within 3 positions; G350V at the same position is pathogenic; not seen in the gnomAD population database; AlphaMissense 0.93 |
| ACADVL K299E | 299 | Catalytic | Uncertain (★) | +6: 4 other pathogenic changes within 3 positions; K299M at the same position is pathogenic; not seen in the gnomAD population database; AlphaMissense 0.98 |
| ACADVL S418R | 418 | Catalytic | Uncertain (★) | +6: 3 other pathogenic changes within 3 positions; S418N at the same position is pathogenic; not seen in the gnomAD population database; AlphaMissense 1.00 |
| ACADVL A281P | 281 | Catalytic | Uncertain (★★) | +6: 4 other pathogenic changes within 3 positions; A281D at the same position is pathogenic; not seen in the gnomAD population database; AlphaMissense 0.95 |
| ACADVL K299R | 299 | Catalytic | Uncertain (★) | +6: 4 other pathogenic changes within 3 positions; K299M at the same position is pathogenic; not seen in the gnomAD population database; AlphaMissense 0.67 |
| ACADVL F113S | 113 | Catalytic | Uncertain (★) | +6: 2 other pathogenic changes within 3 positions; F113I at the same position is pathogenic; not seen in the gnomAD population database; AlphaMissense 0.89 |
| ACADVL M334R | 334 | Catalytic | Uncertain (★★★) | +6: 2 other pathogenic changes within 3 positions; M334T at the same position is pathogenic; REVEL 0.945 |
| ACADVL A349P | 349 | Catalytic | Uncertain (★) | +6: 3 other pathogenic changes within 3 positions; A349E at the same position is pathogenic; not seen in the gnomAD population database; AlphaMissense 0.94 |
Diseases related to Very long chain acyl-CoA dehydrogenase deficiency
- Pancreatic hypoplasia-diabetes-congenital heart disease syndrome, also linked to ACADVL
Frequently asked questions
Which genes are linked to Very long chain acyl-CoA dehydrogenase deficiency?
In CATVariant, Very long chain acyl-CoA dehydrogenase deficiency is linked to 1 analyzed protein: ACADVL (Very long-chain acyl-CoA dehydrogenase, mitochondrial).
How many genetic variants are linked to Very long chain acyl-CoA dehydrogenase deficiency?
685 variants: 149 are classified as disease-causing (pathogenic or likely pathogenic) in ClinVar and 501 are of uncertain significance or have conflicting reports.
Which uncertain variants in Very long chain acyl-CoA dehydrogenase deficiency look disease-causing?
46 uncertain variants reach the likely-pathogenic range of the ACMG/AMP points scale on computable evidence, for example ACADVL G441S, ACADVL G179R, ACADVL P318S, ACADVL G441A and ACADVL F369C. These are leads for expert review, not diagnoses.
About this data
Variant–disease links come from ClinVar, Open Targets and UniProt, pooled from the latest public CATVariant analysis of each human protein. Evidence scores use the ACMG/AMP Bayesian points scale with computable criteria only (position among known disease variants, rarity in gnomAD, calibrated predictors, deep mutational scanning); there is no family or patient data, so they prioritise variants for expert review and never classify them.
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