Is ACOX1 p.Val286fs (c.846_856dup) pathogenic?

ACOX1 p.Val286fs (c.846856dup) is classified Likely pathogenic in ACOX1 (ClinVar, Single submitter, 1 submitter; last evaluated 2023-08-15). Absent from gnomAD; Associated with Mitchell syndrome.

What condition is associated with ACOX1 p.Val286fs (c.846_856dup)?

ACOX1 p.Val286fs (c.846_856dup) is associated with Mitchell syndrome (ClinVar).

How common is ACOX1 p.Val286fs (c.846_856dup) in the general population?

ACOX1 p.Val286fs (c.846_856dup) is absent from gnomAD (gnomAD).

How is Mitchell Syndrome inherited?

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

ACOX1 p.Val286fs

c.846_856dup · rs2546077877 · VCV2680338

Likely pathogenic Single submitter

Classification

Likely pathogenic

ClinVar

Review

Single submitter ★☆☆☆

ClinVar · 1 submitter

Consequence

frameshift

predicted LoF

gnomAD v4.1

Not reported

no gnomAD frequency available for this variant

Conditions

Mitchell syndrome

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 7 of 14
Splicing
SpliceAI	—	not assessed · substitutions only
Constraint at this position
Conservation	phyloP 9.3	GERP 1.9, phastCons 1

Predicted loss-of-function is descriptive, not an applied PVS1 code.

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: ACOX1
Protein: p.Val286fs
Coding: c.846_856dup
MANE Select: NM_004035
dbSNP: rs2546077877
Type: Duplication
Location: chr17:75953538 (GRCh38)
Gene constraint: LOEUF 0.67 · pLI <0.01 · ClinGen HI gene assoc. with recessive phenotype (gnomAD)
Structure: AlphaFold pLDDT 93.95

Full ACOX1 gene report on Sugi Atlas → Gene function, pathways, protein structure, interactions & more

Disease context

Mitchell syndrome — disease report on Sugi Atlas → Associated genes, phenotypes, clinical trials & treatments

For Mitchell Syndrome (Orphanet):

Inheritance: Autosomal dominant

Similar variants

ACOX1 c.1729-2del Likely pathogenic ★★ same condition
ACOX1 c.538+1G>A Pathogenic/Likely pathogenic ★★ same condition
ACOX1 c.945-1G>C Likely pathogenic ★★ same condition
ACOX1 p.Arg148Ter Pathogenic ★★ same condition
ACOX1 p.Arg302Ter Pathogenic ★★ same condition
ACOX1 p.Asn237Ser Pathogenic/Likely pathogenic ★★ same condition
ACOX1 p.Asp573fs Pathogenic/Likely pathogenic ★★ same condition
ACOX1 p.Gln47fs Pathogenic/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/acox1-p-val286fs (accessed [today's date]).

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