Is PEX7 p.Ser251fs (c.751dup) pathogenic?

PEX7 p.Ser251fs (c.751dup) is classified Pathogenic in PEX7 (ClinVar, Single submitter, 1 submitter; last evaluated 2023-02-08). No gnomAD frequency available for this variant; Associated with peroxisome biogenesis disorder 9B.

What condition is associated with PEX7 p.Ser251fs (c.751dup)?

PEX7 p.Ser251fs (c.751dup) is associated with peroxisome biogenesis disorder 9B (ClinVar).

How common is PEX7 p.Ser251fs (c.751dup) in the general population?

PEX7 p.Ser251fs (c.751dup) is no gnomAD frequency available for this variant (gnomAD).

PEX7 p.Ser251fs

c.751dup · rs2548096558 · VCV2835308

Pathogenic Single submitter

Classification

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

peroxisome biogenesis disorder 9B

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 assessed · substitutions only
Constraint at this position
Conservation	phyloP 9.8	GERP 0.68, phastCons 1
Region caveats
Repeat context	tandem	(T)n simple repeat · ambiguous alignment · confidence, not pathogenicity

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: PEX7
Protein: p.Ser251fs
Coding: c.751dup
MANE Select: NM_000288
dbSNP: rs2548096558
Type: Duplication
Location: chr6:136872197 (GRCh38)
Gene constraint: LOEUF 0.941 · pLI <0.01 (gnomAD)
Structure: AlphaFold pLDDT 95.54

Full PEX7 gene report on Sugi Atlas → Gene function, pathways, protein structure, interactions & more

Disease context

peroxisome biogenesis disorder 9B — disease report on Sugi Atlas → Associated genes, phenotypes, clinical trials & treatments

Similar variants

PEX7 p.Gly176fs Pathogenic ★★ same condition
PEX7 p.Ile158fs Likely pathogenic ★★ same condition
PEX7 p.Leu70fs Likely pathogenic ★★ same condition
PEX7 c.130+48_130+53dup Benign ★★ same condition
PEX7 c.748-5dup Benign/Likely benign ★★ same condition
PEX7 c.748-6_748-5dup Benign/Likely benign ★★ same condition
PEX7 p.Arg181fs Pathogenic ★ same condition
PEX7 p.Gln105fs 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/pex7-p-ser251fs (accessed [today's date]).

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