Is ACADS p.Arg330His (c.989_990delinsAT) pathogenic?

ACADS p.Arg330His (c.989990delinsAT) is classified Pathogenic/Likely pathogenic in ACADS (ClinVar, Multiple submitters, 3 submitters; last evaluated 2024-10-12). Absent from gnomAD; Associated with short chain acyl-CoA dehydrogenase deficiency.

What condition is associated with ACADS p.Arg330His (c.989_990delinsAT)?

ACADS p.Arg330His (c.989_990delinsAT) is associated with short chain acyl-CoA dehydrogenase deficiency (ClinVar).

How common is ACADS p.Arg330His (c.989_990delinsAT) in the general population?

ACADS p.Arg330His (c.989_990delinsAT) is absent from gnomAD (gnomAD).

How is Short chain acyl-CoA dehydrogenase deficiency inherited?

Typically Autosomal recessive (Orphanet). A genetic counselor can assess individual risk for a family.

ACADS p.Arg330His

c.989_990delinsAT · rs1555244280 · VCV431801

Pathogenic/Likely pathogenic Multiple submitters

Classification

Pathogenic/Likely pathogenic

ClinVar

Review

Multiple submitters ★★☆☆

ClinVar · 3 submitters

gnomAD v4.1

Not reported

no gnomAD frequency available for this variant

Conditions

short chain acyl-CoA dehydrogenase deficiency

Computational evidence

Protein change
Missense predictors do not apply to this variant type; conservation carries the signal.
Splicing
SpliceAI	—	not assessed · substitutions only
Constraint at this position
Conservation	phyloP 6.6	GERP 1.9, phastCons 1
Regional constraint	o/e 0.91	unconstrained · MANE · 14 kb · p 0.038 · regional, not allelic

Population frequency

dbSNP / gnomAD

No gnomAD frequency available for this variant. This is missing data, not an absence: the variant may or may not be present in gnomAD. Rarity (ACMG PM2) and BA1/BS1 cannot be assessed for it.

Variant & gene context

Gene: ACADS
Protein: p.Arg330His
Coding: c.989_990delinsAT
MANE Select: NM_000017
dbSNP: rs1555244280
Type: Indel
Location: chr12:120738875 (GRCh38)
Gene constraint: LOEUF 0.852 · pLI <0.01 (gnomAD)
Structure: AlphaFold pLDDT 93.58 · 4 PDB
Residue 330: an α-helix

Full ACADS gene report on Sugi Atlas → Gene function, pathways, protein structure, interactions & more

Disease context

short chain acyl-CoA dehydrogenase deficiency — disease report on Sugi Atlas → Associated genes, phenotypes, clinical trials & treatments

For Short chain acyl-CoA dehydrogenase deficiency (Orphanet):

Inheritance: Autosomal recessive
Onset: Childhood, Infancy, Neonatal

Similar variants

ACADS p.Arg330Leu Uncertain significance ★ same residue
ACADS p.Arg330Cys Pathogenic/Likely pathogenic ★★ ⚠ same residue
ACADS p.Arg330= Benign ★★ same residue
ACADS c.211-2A>G Likely pathogenic ★★ same condition
ACADS c.625-1G>A Likely pathogenic ★★ same condition
ACADS c.795+1G>A Pathogenic/Likely pathogenic ★★ same condition
ACADS p.Ala165fs Pathogenic/Likely pathogenic ★★ same condition
ACADS p.Ala199Val 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/acads-p-arg330his (accessed [today's date]).

Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown