ACADM p.Arg7fs
c.18del · VCV4064396
Likely pathogenic
Single submitter
Classification
Likely pathogenic
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
Consequence
frameshift
predicted LoF
gnomAD v4.1
Rare
Conditions
1
medium chain acyl-CoA dehydrogenase deficiency
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation carries the signal. | ||
| Consequence | frameshift | predicted loss-of-function |
|---|---|---|
| NMD | predicted | premature termination codon in exon 1 of 12 |
| Splicing | ||
| SpliceAI | — | not assessed · substitutions only |
| Constraint at this position | ||
| Conservation | phyloP -3.8 | GERP -2.9 |
Predicted loss-of-function is descriptive, not an applied PVS1 code.
Variant & gene context
- Gene
- ACADM
- Protein
- p.Arg7fs
- Coding
- c.18del
- MANE Select
- NM_000016
- Type
- Deletion
- Location
- chr1:75724803 (GRCh38)
- Gene constraint
- LOEUF 1.072 · pLI <0.01 · ClinGen HI gene assoc. with recessive phenotype (gnomAD)
- Structure
- AlphaFold pLDDT 93.15 · 7 PDB
Disease context
medium chain acyl-CoA dehydrogenase deficiency — disease report on Sugi Atlas → Associated genes, phenotypes, clinical trials & treatmentsFor Medium chain acyl-CoA dehydrogenase deficiency (Orphanet):
- Inheritance
- Autosomal recessive
- Onset
- Infancy, Neonatal
- Prevalence
- 1-5 / 10 000 (Europe)
Similar variants
- ACADM p.Arg7= Likely benign ★★ same residue
- ACADM p.Arg7Ter Likely pathogenic ★ same residue
- ACADM c.217-1del Likely pathogenic ★★ same condition
- ACADM p.Ala273fs Pathogenic/Likely pathogenic ★★ same condition
- ACADM p.Ala369fs Pathogenic/Likely pathogenic ★★ same condition
- ACADM p.Arg348fs Pathogenic/Likely pathogenic ★★ same condition
- ACADM p.Arg408fs Pathogenic/Likely pathogenic ★★ same condition
- ACADM p.Arg413fs Likely pathogenic ★★ same condition
Built on 18 open, versioned datasets — ClinVar, gnomAD, AlphaMissense, REVEL, ClinGen & more — plus Sugi Variant's own cross-source analysis. Source data 2026-01–2026-10, ClinVar 2026-10. Full sources & versions →
Cite Sugi Variant
Gür T. Sugi Variant: A Deterministic Per-Variant Germline Reference from a Knowledge Graph for Humans and AI Agents. 2026. doi:10.5281/zenodo.21509445. This variant: https://sugi.bio/variant/acadm-p-arg7fs (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown