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Recognized gene
ACADVL
Normalized c.HGVS
c.*53C>T, c.1001T>G, c.1006A>G, c.1019G>A, c.1048G>A and 44 more
Normalized p.HGVS
p.(=), p.(Ala402Val), p.(Ala44Thr), p.(Ala48Thr), p.(Ala585Val) and 42 more
Matching records
220
PM3-positive records
36
Results are ordered by PM3-relevant evidence first. Reviewed source only indicates whether main text, supplementary material, or both were reviewed; it is not the evidence conclusion.
| Gene | Variant | Evidence | PM3 context | Publication | Reviewed source | Actions |
|---|---|---|---|---|---|---|
| ACADVL |
NM_000018.4:c.1269G>A
|
Phase-confirmed PM3 evidence
High confidence
|
Confirmed in trans with c.1055T>C; p.Met352Thr
context: Confirmed in trans
|
40678976
Characterization of Variants of Uncertain Significance in ACADVL Gene From a Very-Long-Chain Acyl-CoA Dehydrogenase Deficiency Patient.
Molecular genetics & genomic medicine, 2025
|
Main article | |
| ACADVL |
NM_000018.4:c.1268C>T
|
Phase-unconfirmed biallelic evidence
High confidence
|
Possible compound heterozygous with c.541dupC; p.His181Profsa72
context: Compound heterozygous candidate
|
41702539
Direct Prediction of VLCADD Severity Using Newborn Screening Analyte Data.
Journal of inherited metabolic disease, 2026
|
Main article | |
| ACADVL |
NM_000018.4:c.1838G>A
|
Phase-unconfirmed biallelic evidence
High confidence
|
Possible compound heterozygous with c.628A>C; p.Thr210Pro
context: Compound heterozygous candidate
|
41702539
Direct Prediction of VLCADD Severity Using Newborn Screening Analyte Data.
Journal of inherited metabolic disease, 2026
|
Main article | |
| ACADVL |
NM_000018.4:c.628A>C
|
Phase-unconfirmed biallelic evidence
High confidence
|
Possible compound heterozygous with c.1838G>A; p.Arg613Gln
context: Compound heterozygous candidate
|
41702539
Direct Prediction of VLCADD Severity Using Newborn Screening Analyte Data.
Journal of inherited metabolic disease, 2026
|
Main article | |
| ACADVL |
NM_000018.4:c.1838G>A
|
Phase-unconfirmed biallelic evidence
High confidence
|
Possible compound heterozygous with c.848T>C
context: Compound heterozygous candidate
|
39837805
Assessment of Fasting Metabolism With Microdialysis Indicates Earlier Lipolysis in Children With VLCADD Than MCADD.
Acta paediatrica (Oslo, Norway : 1992), 2025
|
Main article | |
| ACADVL |
NM_000018.4:c.881G>A
|
Phase-unconfirmed biallelic evidence
Needs review
|
Possible compound heterozygous with c.553G>A; p.Gly185Ser
context: Compound heterozygous candidate
|
39188284
Four novel variants identified in the ACADVL gene causing very-long-chain acyl-coenzyme A dehydrogenase deficiency in four unrelated Chinese families.
Frontiers in genetics, 2024
|
Main article | |
| ACADVL |
NM_000018.4:c.577G>C
|
Phase-unconfirmed biallelic evidence
High confidence
|
Possible compound heterozygous with c.680C>T
context: Compound heterozygous candidate
|
39035620
Late-onset Very long-chain acyl-CoA dehydrogenase deficiency diagnosis complicated by fulminant myocarditis in adult patient.
Journal of intensive medicine, 2024
|
Main article | |
| ACADVL |
NM_000018.4:c.1894C>T
|
Phase-unconfirmed biallelic evidence
Needs review
|
Possible compound heterozygous with C1748G; S583W
context: Compound heterozygous candidate
|
38229914
Anesthetic Management and Neuromonitoring in a Patient with Very Long-Chain Acyl-Coenzyme A Dehydrogenase Deficiency Undergoing Scoliosis Surgery: A Case Report and Review of Literature.
Case reports in anesthesiology, 2024
|
Main article | |
| ACADVL |
NM_000018.4:c.1838G>A
|
Phase-unconfirmed biallelic evidence
High confidence
|
Possible compound heterozygous with c.1055T > C; p.M352T
context: Compound heterozygous candidate
|
38187300
Newborn screening for fatty acid oxidation disorders in a southern Chinese population.
Heliyon, 2023
|
Main article | |
| ACADVL |
NM_000018.4:c.1733T>C
|
Phase-unconfirmed biallelic evidence
High confidence
|
Possible compound heterozygous with c.779C > T; p.Thr260Met
context: Compound heterozygous candidate
|
36109795
Outcomes of mitochondrial long chain fatty acid oxidation and carnitine defects from a single center metabolic genetics clinic.
Orphanet journal of rare diseases, 2022
|
Main article | |
| ACADVL |
NM_000018.4:c.1147C>G
|
Phase-unconfirmed biallelic evidence
High confidence
|
Possible compound heterozygous with c.896_898del; p.Lys299del
context: Compound heterozygous candidate
|
36078043
Treatment of VLCAD-Deficient Patient Fibroblasts with Peroxisome Proliferator-Activated Receptor δ Agonist Improves Cellular Bioenergetics.
Cells, 2022
|
Main article | |
| ACADVL |
NM_000018.4:c.1825G>A
|
Phase-unconfirmed biallelic evidence
High confidence
|
Possible compound heterozygous with c.520G > A; p.Val174Met
context: Compound heterozygous candidate
|
36078043
Treatment of VLCAD-Deficient Patient Fibroblasts with Peroxisome Proliferator-Activated Receptor δ Agonist Improves Cellular Bioenergetics.
Cells, 2022
|
Main article | |
| ACADVL |
NM_000018.4:c.1838G>A
|
Phase-unconfirmed biallelic evidence
Needs review
|
Possible compound heterozygous with c.848T>C; p.(Val283Ala)
context: Compound heterozygous candidate
|
35281659
Very long-chain acyl-CoA dehydrogenase deficiency in a Swedish cohort: Clinical symptoms, newborn screening, enzyme activity, and genetics.
JIMD reports, 2022
|
Main article | |
| ACADVL |
NM_000018.4:c.1894C>T
|
Phase-unconfirmed biallelic evidence
High confidence
|
Possible compound heterozygous with c.896A > T; p.(Lys299Met)
context: Compound heterozygous candidate
|
35281659
Very long-chain acyl-CoA dehydrogenase deficiency in a Swedish cohort: Clinical symptoms, newborn screening, enzyme activity, and genetics.
JIMD reports, 2022
|
Main article | |
| ACADVL |
NM_000018.4:c.1825G>A
|
Phase-unconfirmed biallelic evidence
High confidence
|
Possible compound heterozygous with c.520G > A; p.V174M
context: Compound heterozygous candidate
|
35076099
Medium branched chain fatty acids improve the profile of tricarboxylic acid cycle intermediates in mitochondrial fatty acid β-oxidation deficient cells: A comparative study.
Journal of inherited metabolic disease, 2022
|
Main article | |
| ACADVL |
NM_000018.4:c.1825G>A
|
Phase-unconfirmed biallelic evidence
High confidence
|
Possible compound heterozygous with c.520G > A
context: Compound heterozygous candidate
|
34638902
Lipidomic and Proteomic Alterations Induced by Even and Odd Medium-Chain Fatty Acids on Fibroblasts of Long-Chain Fatty Acid Oxidation Disorders.
International journal of molecular sciences, 2021
|
Main article | |
| ACADVL |
NM_000018.4:c.1825G>A
|
Phase-unconfirmed biallelic evidence
High confidence
|
Possible compound heterozygous with c.520G > A
context: Compound heterozygous candidate
|
34069977
Different Lipid Signature in Fibroblasts of Long-Chain Fatty Acid Oxidation Disorders.
Cells, 2021
|
Main article | |
| ACADVL |
NM_000018.4:c.1066A>G
|
Phase-unconfirmed biallelic evidence
High confidence
|
Possible compound heterozygous with c.533T>C; p.Leu178Pro
context: Compound heterozygous candidate
|
33123633
Performance of Expanded Newborn Screening in Norway Supported by Post-Analytical Bioinformatics Tools and Rapid Second-Tier DNA Analyses.
International journal of neonatal screening, 2020
|
Main article | |
| ACADVL |
NM_000018.4:c.1177A>G
|
Phase-unconfirmed biallelic evidence
High confidence
|
Possible compound heterozygous with c.848T>C; p.Val283Ala
context: Compound heterozygous candidate
|
33123633
Performance of Expanded Newborn Screening in Norway Supported by Post-Analytical Bioinformatics Tools and Rapid Second-Tier DNA Analyses.
International journal of neonatal screening, 2020
|
Main article | |
| ACADVL |
NM_000018.4:c.495G>T
|
Phase-unconfirmed biallelic evidence
High confidence
|
Possible compound heterozygous with c.848T>C
context: Compound heterozygous candidate
|
33123633
Performance of Expanded Newborn Screening in Norway Supported by Post-Analytical Bioinformatics Tools and Rapid Second-Tier DNA Analyses.
International journal of neonatal screening, 2020
|
Main article | |