Medium chain acyl-CoA dehydrogenase deficiency: genes and variants
Explore variant evidence for Medium chain acyl-CoA dehydrogenase deficiency across 1 analyzed protein (ACADM). Linked ClinVar records include 117 pathogenic or likely pathogenic variants, 104 variants of uncertain significance and 41 with conflicting classifications.
Coverage includes proteins already analyzed in CATVariant, not every gene involved in this condition. Database links are associations, not an assessment of clinical gene–disease validity. Computable evidence prioritizes variants for expert review and does not reclassify them. Source labels are pooled across this disease family.
Data updated 2026-10-10. Automated aggregation, not a clinical review date.
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Genes linked to Medium chain acyl-CoA dehydrogenase deficiency
ACADM: Medium-chain specific acyl-CoA dehydrogenase, mitochondrial
It performs the first oxidation step for medium-chain fatty acids during mitochondrial beta-oxidation, becoming especially important during fasting. Biallelic loss-of-function variants cause MCAD deficiency, with risk of hypoketotic hypoglycemia and sudden metabolic decompensation.
117 ClinVar pathogenic / likely pathogenic and 145 uncertain variants in ACADM have source records linked to Medium chain acyl-CoA dehydrogenase deficiency. Association strength is not clinical gene validity.
ClinVar pathogenic and likely pathogenic variants linked to Medium chain acyl-CoA dehydrogenase deficiency
| Variant | Position | Protein part | Clinical label |
|---|---|---|---|
| ACADM Q45R | 45 | Pathogenic / likely pathogenic (★★) | |
| ACADM P132R | 132 | Pathogenic / likely pathogenic (★★) | |
| ACADM Y158C | 158 | Pathogenic / likely pathogenic (★★) | |
| ACADM A165T | 165 | Pathogenic / likely pathogenic (★★) | |
| ACADM A205P | 205 | Pathogenic / likely pathogenic (★★) | |
| ACADM A205V | 205 | Pathogenic / likely pathogenic (★★) | |
| ACADM R248G | 248 | Pathogenic / likely pathogenic (★★) | |
| ACADM R281T | 281 | Pathogenic / likely pathogenic (★★) | |
| ACADM M326T | 326 | Pathogenic / likely pathogenic (★★) | |
| ACADM D345V | 345 | Pathogenic / likely pathogenic (★★) | |
| ACADM I356T | 356 | Pathogenic / likely pathogenic (★★) | |
| ACADM Y397N | 397 | Pathogenic / likely pathogenic (★★) | |
| ACADM R53C | 53 | Pathogenic / likely pathogenic (★★) | |
| ACADM I78T | 78 | Pathogenic / likely pathogenic (★★) | |
| ACADM D104G | 104 | Pathogenic / likely pathogenic (★★) | |
| ACADM Y158H | 158 | Pathogenic / likely pathogenic (★★) | |
| ACADM A198T | 198 | Pathogenic / likely pathogenic (★★) | |
| ACADM R413S | 413 | Pathogenic / likely pathogenic (★★) | |
| ACADM R413C | 413 | Pathogenic / likely pathogenic (★★) | |
| ACADM M1I | 1 | Pathogenic / likely pathogenic (★★) | |
| ACADM M1V | 1 | Pathogenic / likely pathogenic (★★) | |
| ACADM A56P | 56 | Pathogenic / likely pathogenic (★★) | |
| ACADM I78M | 78 | Pathogenic / likely pathogenic (★★) | |
| ACADM E111K | 111 | Pathogenic / likely pathogenic (★★) | |
| ACADM M155T | 155 | Pathogenic / likely pathogenic (★★) | |
| ACADM I185T | 185 | Pathogenic / likely pathogenic (★★) | |
| ACADM N194D | 194 | Pathogenic / likely pathogenic (★★) | |
| ACADM R206L | 206 | Pathogenic / likely pathogenic (★★) | |
| ACADM A218G | 218 | Pathogenic / likely pathogenic (★★) | |
| ACADM I223T | 223 | Pathogenic / likely pathogenic (★★) | |
| ACADM R281S | 281 | Pathogenic / likely pathogenic (★★) | |
| ACADM M328V | 328 | Pathogenic / likely pathogenic (★★) | |
| ACADM G347V | 347 | Pathogenic / likely pathogenic (★★) | |
| ACADM Y352C | 352 | Pathogenic / likely pathogenic (★★) | |
| ACADM K358M | 358 | Pathogenic / likely pathogenic (★★) | |
| ACADM I410T | 410 | Pathogenic / likely pathogenic (★★) | |
| ACADM R29Q | 29 | Pathogenic / likely pathogenic (★★) | |
| ACADM R29L | 29 | Pathogenic / likely pathogenic (★★) | |
| ACADM Y67H | 67 | Pathogenic / likely pathogenic (★★) | |
| ACADM R80G | 80 | Pathogenic / likely pathogenic (★★) | |
| ACADM L84F | 84 | Pathogenic / likely pathogenic (★★) | |
| ACADM G85R | 85 | Pathogenic / likely pathogenic (★★) | |
| ACADM C116Y | 116 | Pathogenic / likely pathogenic (★★) | |
| ACADM T121I | 121 | Pathogenic / likely pathogenic (★★) | |
| ACADM R148K | 148 | Pathogenic / likely pathogenic (★★) | |
| ACADM M149I | 149 | Pathogenic / likely pathogenic (★★) | |
| ACADM T193A | 193 | Pathogenic / likely pathogenic (★★) | |
| ACADM K197E | 197 | Pathogenic / likely pathogenic (★★) | |
| ACADM S245L | 245 | Pathogenic / likely pathogenic (★★) | |
| ACADM G267R | 267 | Pathogenic / likely pathogenic (★★) | |
| ACADM M274V | 274 | Pathogenic / likely pathogenic (★★) | |
| ACADM R294T | 294 | Pathogenic / likely pathogenic (★★) | |
| ACADM R349Q | 349 | Pathogenic / likely pathogenic (★★) | |
| ACADM T351I | 351 | Pathogenic / likely pathogenic (★★) | |
| ACADM R31H | 31 | Pathogenic / likely pathogenic (★★) | |
| ACADM M87T | 87 | Pathogenic / likely pathogenic (★★) | |
| ACADM L203F | 203 | Pathogenic / likely pathogenic (★★) | |
| ACADM G362E | 362 | Pathogenic / likely pathogenic (★★) | |
| ACADM I375T | 375 | Pathogenic / likely pathogenic (★★) | |
| ACADM R17C | 17 | Pathogenic / likely pathogenic (★★) |
Showing 60 of 117.
Uncertain variants prioritized for review in Medium chain acyl-CoA dehydrogenase deficiency
| Variant | Position | Protein part | Clinical label | Evidence |
|---|---|---|---|---|
| ACADM T220I | 220 | Conflicting reports (★) | +7: 4 other pathogenic changes within 3 positions; T220S at the same position is pathogenic; seen in 6.6e-06 of gnomAD DNA copies; REVEL 0.888 | |
| ACADM C116G | 116 | Conflicting reports (★) | +7: 6 other pathogenic changes within 3 positions; C116Y at the same position is pathogenic; seen in 2e-06 of gnomAD DNA copies; REVEL 0.921 | |
| ACADM Y352D | 352 | Conflicting reports (★) | +7: 4 other pathogenic changes within 3 positions; Y352C at the same position is pathogenic; seen in 6.8e-07 of gnomAD DNA copies; REVEL 0.869 | |
| ACADM A218D | 218 | Conflicting reports (★) | +7: 3 other pathogenic changes within 3 positions; A218G at the same position is pathogenic; seen in 2.7e-06 of gnomAD DNA copies; REVEL 0.863 | |
| ACADM G118R | 118 | Uncertain (★) | +7: 4 other pathogenic changes within 3 positions; G118A at the same position is pathogenic; seen in 1.4e-06 of gnomAD DNA copies; REVEL 0.985 | |
| ACADM I185S | 185 | Uncertain (★) | +7: in a 3D region that tolerates change poorly (1R); I185T at the same position is pathogenic; seen in 6.6e-06 of gnomAD DNA copies; REVEL 0.973 | |
| ACADM G195A | 195 | Uncertain | +7: 6 other pathogenic changes within 3 positions; G195E at the same position is pathogenic; seen in 6.9e-07 of gnomAD DNA copies; REVEL 0.848 | |
| ACADM N194S | 194 | Uncertain (★) | +7: 4 other pathogenic changes within 3 positions; N194D at the same position is pathogenic; seen in 2.1e-06 of gnomAD DNA copies; REVEL 0.926 | |
| ACADM N194K | 194 | Uncertain (★) | +7: 4 other pathogenic changes within 3 positions; N194D at the same position is pathogenic; seen in 2.1e-06 of gnomAD DNA copies; REVEL 0.865 | |
| ACADM G85C | 85 | Conflicting reports (★) | +6: 3 other pathogenic changes within 3 positions; G85R at the same position is pathogenic; REVEL 0.967 | |
| ACADM D168A | 168 | Conflicting reports (★) | +6: 3 other pathogenic changes within 3 positions; D168G at the same position is pathogenic; REVEL 0.985 | |
| ACADM R413H | 413 | Conflicting reports (★) | +6: 3 other pathogenic changes within 3 positions; R413S at the same position is pathogenic; REVEL 0.927 | |
| ACADM V373A | 373 | Conflicting reports (★) | +6: 2 other pathogenic changes within 3 positions; V373M at the same position is pathogenic; REVEL 0.968 | |
| ACADM L107S | 107 | Conflicting reports (★) | +6: 3 other pathogenic changes within 3 positions; L107F at the same position is pathogenic; REVEL 0.936 | |
| ACADM R53H | 53 | Conflicting reports (★) | +6: 4 other pathogenic changes within 3 positions; R53C at the same position is pathogenic; REVEL 0.791 | |
| ACADM F103Y | 103 | Conflicting reports (★) | +6: 3 other pathogenic changes within 3 positions; F103L at the same position is pathogenic; seen in 6.6e-06 of gnomAD DNA copies; REVEL 0.720 | |
| ACADM V289F | 289 | Uncertain (★) | +6: 2 other pathogenic changes within 3 positions; V289I at the same position is pathogenic; not seen in the gnomAD population database; AlphaMissense 0.89 | |
| ACADM R248T | 248 | Uncertain (★★) | +6: 3 other pathogenic changes within 3 positions; R248S at the same position is pathogenic; REVEL 0.866 |
Frequently asked questions
Which genes have records linked to Medium chain acyl-CoA dehydrogenase deficiency?
This view contains 1 analyzed proteins: ACADM. Links come from clinical records and association databases. They do not imply that every listed gene is a validated cause, and missing genes may not yet be analyzed.
What do the clinical classifications mean?
Linked records include 117 pathogenic or likely pathogenic variants, 104 variants of uncertain significance and 41 with conflicting classifications. Labels summarize source records; multi-condition records may not make a separate assertion for this disease. Check the original record and review status.
Does the evidence score change a VUS classification?
No. 18 VUS or conflicting variants reach the likely-pathogenic points range on the computable criteria available here. This is a research prioritization signal, not a clinical classification. Patient, family and other required evidence may be missing.
Can I download the variant evidence?
Download the CSV for all 312 variants in the selected disease scope, including clinical labels, review status, evidence criteria, predictor scores, functional measurements and population frequency where available.
About this data
Variant–disease links come from ClinVar, Open Targets and UniProt, pooled from eligible public CATVariant analyses 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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