Is WT1 p.Ser102Lys (c.305_306delinsAA) pathogenic?

WT1 p.Ser102Lys (c.305306delinsAA) is classified Uncertain significance in WT1 (ClinVar, Single submitter, 1 submitter; last evaluated 2024-10-28). Associated with Denys-Drash syndrome.

What condition is associated with WT1 p.Ser102Lys (c.305_306delinsAA)?

WT1 p.Ser102Lys (c.305_306delinsAA) is associated with Denys-Drash syndrome (ClinVar).

How is Denys-Drash syndrome inherited?

Typically Autosomal dominant (Orphanet). A genetic counselor can assess individual risk for a family.

WT1 p.Ser102Lys

c.305_306delinsAA · VCV4531912

Uncertain significance Single submitter

Classification

Uncertain significance

ClinVar

Review

Single submitter ★☆☆☆

ClinVar · 1 submitter

gnomAD v4.1

Rare

Conditions

Denys-Drash syndrome

Computational evidence

Protein change
Missense predictors do not apply to this variant type; conservation carries the signal.
Splicing
SpliceAI	—	not assessed · substitutions only
Constraint at this position
Conservation	phyloP 4.8	GERP 0.42, phastCons 1
Regional constraint	o/e 0.93	unconstrained · MANE · 39 kb · p 0.077 · regional, not allelic

Variant & gene context

Gene: WT1
Protein: p.Ser102Lys
Coding: c.305_306delinsAA
MANE Select: NM_024426
Type: Indel
Location: chr11:32435055 (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

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

For Denys-Drash syndrome (Orphanet):

Inheritance: Autosomal dominant
Onset: Adolescent, Childhood, Infancy, Neonatal

Similar variants

WT1 p.Ser102Asn Uncertain significance ★★ same residue
WT1 p.Ala10Ile Uncertain significance ★★ same condition
WT1 p.Arg374Gln Uncertain significance ★★ same condition
WT1 p.Arg374Trp Uncertain significance ★★ same condition
WT1 c.887+15_887+16delinsAA Uncertain significance ★ same condition
WT1 p.Ala51Asn Uncertain significance ★ same condition
WT1 p.Arg375Tyr Uncertain significance ★ same condition
WT1 p.His340_Ser341delinsGlnArg Uncertain significance ★ 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/wt1-p-ser102lys (accessed [today's date]).

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