Is WT1 p.Ser267fs (c.796_797dup) pathogenic?

WT1 p.Ser267fs (c.796797dup) is classified Pathogenic in WT1 (ClinVar, Single submitter, 1 submitter; last evaluated 2023-03-22). No gnomAD frequency available for this variant; Associated with WT1-related disorder.

What condition is associated with WT1 p.Ser267fs (c.796_797dup)?

WT1 p.Ser267fs (c.796_797dup) is associated with WT1-related disorder (ClinVar).

How common is WT1 p.Ser267fs (c.796_797dup) in the general population?

WT1 p.Ser267fs (c.796_797dup) is no gnomAD frequency available for this variant (gnomAD).

WT1 p.Ser267fs

c.796_797dup · rs2494426569 · VCV2633663

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

WT1-related disorder

Computational evidence

Protein change
Missense predictors do not apply to this variant type; conservation carries the signal.
Consequence	frameshift	predicted loss-of-function in a haploinsufficient gene (ClinGen)
NMD	predicted	premature termination codon in exon 3 of 10
Splicing
SpliceAI	—	not assessed · substitutions only
Constraint at this position
Conservation	phyloP 4.5	GERP 1.3, 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: WT1
Protein: p.Ser267fs
Coding: c.796_797dup
MANE Select: NM_024426
dbSNP: rs2494426569
Type: Duplication
Location: chr11:32428045 (GRCh38)
Gene constraint: LOEUF 0.253 · pLI 1.00 · ClinGen HI 3/3 (gnomAD)
Structure: AlphaFold pLDDT 52.09 · 31 PDB

Full WT1 gene report on Sugi Atlas → Gene function, pathways, protein structure, interactions & more

Disease context

WT1-related disorder — disease report on Sugi Atlas → Associated genes, phenotypes, clinical trials & treatments

Similar variants

WT1 p.Ser267= Likely benign ★★ same residue
WT1 p.Ala387fs Likely pathogenic ★ same condition
WT1 p.Pro278fs Likely pathogenic ★ same condition
WT1 p.Thr363fs Likely pathogenic ★ same condition
WT1 p.Tyr294fs Likely pathogenic ★ same condition
WT1 p.Ser267Ala Uncertain significance ★ same residue
WT1 p.Ser267Leu Uncertain significance ★ same residue
WT1 p.Ser267Pro Uncertain significance ★ same residue

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/wt1-p-ser267fs (accessed [today's date]).

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