Is WT1 p.Cys282Arg (c.844T>C) pathogenic?

WT1 p.Cys282Arg (c.844T>C) is classified Uncertain significance in WT1 (ClinVar, Single submitter, 1 submitter; last evaluated 2025-09-11). No allele count reported in gnomAD v4.1 (AN 1,611,848); Associated with Inborn genetic diseases.

What condition is associated with WT1 p.Cys282Arg (c.844T>C)?

WT1 p.Cys282Arg (c.844T>C) is associated with Inborn genetic diseases (ClinVar).

How common is WT1 p.Cys282Arg (c.844T>C) in the general population?

WT1 p.Cys282Arg (c.844T>C) is no allele count reported in gnomAD v4.1 (AN 1,611,848) (gnomAD).

WT1 p.Cys282Arg

c.844T>C · VCV4202254

Uncertain significance Single submitter

Classification

Uncertain significance

ClinVar

Review

Single submitter ★☆☆☆

ClinVar · 1 submitter

gnomAD v4.1

Not reported

no allele count reported in gnomAD v4.1 (AN 1,611,848)

Conditions

Inborn genetic diseases

Computational evidence

Protein change
Missense predictors do not apply to this variant type; conservation carries the signal.
REVEL	0.837	moderately pathogenic-leaning
Splicing
SpliceAI	—	not assessed · no allele here is in the release
Constraint at this position
Conservation	phyloP 11	GERP 2.2, phastCons 1
Regional constraint	o/e 0.93	unconstrained · MANE · 39 kb · p 0.077 · regional, not allelic
Overall
CADD	27.4	PHRED · no single calibrated threshold — expert panels disagree

Population frequency

gnomAD v4.1 · exomes + genomes

No allele count reported in gnomAD v4.1 (AN 1,611,848). 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.Cys282Arg
Coding: c.844T>C
MANE Select: NM_024426
Type: single nucleotide variant
Location: chr11:32427999 (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

Inborn genetic diseases — disease report on Sugi Atlas → Associated genes, phenotypes, clinical trials & treatments

Similar variants

WT1 p.Cys282Phe Uncertain significance ★★ same residue
WT1 p.Cys282= Likely benign ★★ same residue
WT1 c.1016+4A>C Uncertain significance ★★ same condition
WT1 c.1113+5G>A Uncertain significance ★★ same condition
WT1 c.1113+5G>C Uncertain significance ★★ same condition
WT1 c.1448-3C>T Uncertain significance ★★ same condition
WT1 c.888-1G>A Uncertain significance ★★ same condition
WT1 c.965+5G>A 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-cys282arg (accessed [today's date]).

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