Is ALDOB p.Leu289del (c.865_867del) pathogenic?

ALDOB p.Leu289del (c.865867del) is classified Pathogenic in ALDOB (ClinVar, No assertion criteria, 1 submitter; last evaluated 1990-02-10). Absent from gnomAD; Associated with hereditary fructose intolerance.

What condition is associated with ALDOB p.Leu289del (c.865_867del)?

ALDOB p.Leu289del (c.865_867del) is associated with hereditary fructose intolerance (ClinVar).

How common is ALDOB p.Leu289del (c.865_867del) in the general population?

ALDOB p.Leu289del (c.865_867del) is absent from gnomAD (gnomAD).

How is Hereditary fructose intolerance inherited?

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

ALDOB p.Leu289del

c.865_867del · rs118204425 · VCV466

Pathogenic No assertion criteria

Classification

Pathogenic

ClinVar

Review

No assertion criteria ☆☆☆☆

ClinVar · 1 submitter

gnomAD v4.1

Not reported

no gnomAD frequency available for this variant

Conditions

hereditary fructose intolerance

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 11	GERP 2.9, phastCons 1

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: ALDOB
Protein: p.Leu289del
Coding: c.865_867del
MANE Select: NM_000035
dbSNP: rs118204425
Type: Deletion
Location: chr9:101424975 (GRCh38)
Gene constraint: LOEUF 1.183 · pLI <0.01 (gnomAD)
Structure: AlphaFold pLDDT 96.12 · 4 PDB
Residue 289: an α-helix

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

Disease context

hereditary fructose intolerance — disease report on Sugi Atlas → Associated genes, phenotypes, clinical trials & treatments

For Hereditary fructose intolerance (Orphanet):

Inheritance: Autosomal recessive
Onset: All ages
Prevalence: 1-9 / 100 000 (Europe)

Similar variants

ALDOB p.Leu289fs Pathogenic ★★ same residue
ALDOB c.113-1_115del Pathogenic/Likely pathogenic ★★ same condition
ALDOB c.541-277_651del Likely pathogenic ★★ same condition
ALDOB p.Asp141fs Pathogenic/Likely pathogenic ★★ same condition
ALDOB p.Glu15fs Pathogenic/Likely pathogenic ★★ same condition
ALDOB p.Glu225fs Pathogenic/Likely pathogenic ★★ same condition
ALDOB p.Leu84fs Pathogenic/Likely pathogenic ★★ same condition
ALDOB p.Lys101fs 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/aldob-p-leu289del (accessed [today's date]).

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