Is ZEB2 p.Val65fs (c.194_195del) pathogenic?

ZEB2 p.Val65fs (c.194195del) is classified Pathogenic in ZEB2 (ClinVar, Single submitter, 1 submitter; last evaluated 2019-05-28). No gnomAD frequency available for this variant; Associated with Mowat-Wilson syndrome.

What condition is associated with ZEB2 p.Val65fs (c.194_195del)?

ZEB2 p.Val65fs (c.194_195del) is associated with Mowat-Wilson syndrome (ClinVar).

How common is ZEB2 p.Val65fs (c.194_195del) in the general population?

ZEB2 p.Val65fs (c.194_195del) is no gnomAD frequency available for this variant (gnomAD).

ZEB2 p.Val65fs

c.194_195del · rs1573743951 · VCV801757

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

Mowat-Wilson syndrome

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 10	GERP 2.9, 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: ZEB2
Protein: p.Val65fs
Coding: c.194_195del
MANE Select: NM_014795
dbSNP: rs1573743951
Type: Microsatellite
Location: chr2:144429905 (GRCh38)
Gene constraint: LOEUF 0.114 · pLI 1.00 · ClinGen HI 3/3 (gnomAD)
Structure: AlphaFold pLDDT 48.91 · 1 PDB
Residue 65: the 'disordered' region

Full ZEB2 gene report on Sugi Atlas → Gene function, pathways, protein structure, interactions & more

Disease context

Mowat-Wilson syndrome — disease report on Sugi Atlas → Associated genes, phenotypes, clinical trials & treatments

Similar variants

ZEB2 p.Val65Met Benign ★ same residue
ZEB2 p.Asn607fs Pathogenic/Likely pathogenic ★★ same condition
ZEB2 p.Cys1057_Asp1058delinsTer Pathogenic ★★ same condition
ZEB2 p.Ser996fs Pathogenic ★★ same condition
ZEB2 p.Asn100del Uncertain significance ★★ same condition
ZEB2 c.593-27CT[5] Benign/Likely benign ★★ same condition
ZEB2 c.74-24GT[2] Likely benign ★★ same condition
ZEB2 p.Glu588fs 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/zeb2-p-val65fs (accessed [today's date]).

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