Is PEX1 p.Arg1127fs (c.3379dup) pathogenic?

PEX1 p.Arg1127fs (c.3379dup) is classified Pathogenic in PEX1 (ClinVar, No assertion criteria, 1 submitter; last evaluated 2015-12-30). No gnomAD frequency available for this variant; Associated with peroxisome biogenesis disorder 1B.

What condition is associated with PEX1 p.Arg1127fs (c.3379dup)?

PEX1 p.Arg1127fs (c.3379dup) is associated with peroxisome biogenesis disorder 1B, peroxisome biogenesis disorder 1A (Zellweger) (ClinVar).

How common is PEX1 p.Arg1127fs (c.3379dup) in the general population?

PEX1 p.Arg1127fs (c.3379dup) is no gnomAD frequency available for this variant (gnomAD).

PEX1 p.Arg1127fs

c.3379dup · rs794729652 · VCV203390

Pathogenic No assertion criteria

Classification

Pathogenic

ClinVar

Review

No assertion criteria ☆☆☆☆

ClinVar · 1 submitter

Consequence

frameshift

predicted LoF

gnomAD v4.1

Not reported

no gnomAD frequency available for this variant

Conditions

peroxisome biogenesis disorder 1B

Computational evidence

Protein change
Missense predictors do not apply to this variant type; conservation carries the signal.
Consequence	frameshift	predicted loss-of-function; NMD-escape possible for C-terminal truncations
Splicing
SpliceAI	—	not looked up on this page · why
Constraint at this position
Conservation	phyloP 6	GERP 3.9, 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: PEX1
Protein: p.Arg1127fs
Coding: c.3379dup
MANE Select: NM_021167 · reported on NM_000466
dbSNP: rs794729652
Type: Duplication
Location: chr7:92491330 (GRCh38)

Full PEX1 gene report on Sugi Atlas → Gene function, pathways, protein structure, interactions & more

Disease context

peroxisome biogenesis disorder 1B — disease report on Sugi Atlas → Associated genes, phenotypes, clinical trials & treatments

Also linked: peroxisome biogenesis disorder 1A (Zellweger)

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/pex1-p-arg1127fs (accessed [today's date]).

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