Is PEX26 p.Gln111fs (c.332del) pathogenic?

PEX26 p.Gln111fs (c.332del) is classified Likely pathogenic in PEX26 (ClinVar, Single submitter, 1 submitter). Associated with peroxisome biogenesis disorder 7A (Zellweger).

What condition is associated with PEX26 p.Gln111fs (c.332del)?

PEX26 p.Gln111fs (c.332del) is associated with peroxisome biogenesis disorder 7A (Zellweger), peroxisome biogenesis disorder 7B (ClinVar).

PEX26 p.Gln111fs

c.332del · VCV3382177

Likely pathogenic Single submitter

Classification

Likely pathogenic

ClinVar

Review

Single submitter ★☆☆☆

ClinVar · 1 submitter

Consequence

frameshift

predicted LoF

gnomAD v4.1

Rare

Conditions

peroxisome biogenesis disorder 7A (Zellweger)

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 2 of 5
Splicing
SpliceAI	—	not assessed · substitutions only
Constraint at this position
Conservation	phyloP 4	GERP 2, phastCons 1

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

Variant & gene context

Gene: PEX26
Protein: p.Gln111fs
Coding: c.332del
MANE Select: NM_001127649
Type: Deletion
Location: chr22:18079975 (GRCh38)
Gene constraint: LOEUF 0.893 · pLI <0.01 (gnomAD)
Structure: AlphaFold pLDDT 79.87

Full PEX26 gene report on Sugi Atlas → Gene function, pathways, protein structure, interactions & more

Disease context

peroxisome biogenesis disorder 7A (Zellweger) — disease report on Sugi Atlas → Associated genes, phenotypes, clinical trials & treatments

Also linked: peroxisome biogenesis disorder 7B

Similar variants

PEX26 p.Gln111His Uncertain significance ★ ⚠ same residue
PEX26 p.Gln111Lys Uncertain significance ★ ⚠ same residue
PEX26 p.Gln111= Likely benign ★ same residue
PEX26 p.Arg13fs Pathogenic ★★ same condition
PEX26 p.Gln205fs Pathogenic ★★ same condition
PEX26 p.Leu12fs Pathogenic/Likely pathogenic ★★ same condition
PEX26 p.Tyr110fs Pathogenic/Likely pathogenic ★★ same condition
PEX26 p.Val120fs 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/pex26-p-gln111fs (accessed [today's date]).

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