Is WT1 p.Arg385= (c.1155G>A) pathogenic?

WT1 p.Arg385= (c.1155G>A) is classified Likely benign in WT1 (ClinVar, Single submitter, 1 submitter; last evaluated 2022-07-19). Absent from gnomAD v4.1; Associated with Wilms tumor 1.

What condition is associated with WT1 p.Arg385= (c.1155G>A)?

WT1 p.Arg385= (c.1155G>A) is associated with Wilms tumor 1, Frasier syndrome, WAGR syndrome (ClinVar).

How common is WT1 p.Arg385= (c.1155G>A) in the general population?

WT1 p.Arg385= (c.1155G>A) is absent from gnomAD v4.1 (gnomAD).

WT1 p.Arg385=

c.1155G>A · rs776651253 · VCV1148945

Likely benign Single submitter

Classification

Likely benign

ClinVar

Review

Single submitter ★☆☆☆

ClinVar · 1 submitter

gnomAD v4.1

Absent

absent from gnomAD v4.1

Conditions

Wilms tumor 1

Computational evidence

Protein change
Missense predictors do not apply to this variant type; conservation carries the signal.
REVEL	0.014	strongly benign-leaning
Splicing
SpliceAI	—	not assessed · no allele here is in the release
Constraint at this position
Conservation	phyloP -0.56	GERP -5.4, phastCons 0.014
Overall
CADD	12.19	PHRED · no single calibrated threshold — expert panels disagree

Population frequency

gnomAD v4.1 · exomes + genomes

Absent from gnomAD v4.1. Not observed in any sequenced alleles — a rarity signal (ACMG PM2-supporting), not evidence of pathogenicity on its own.

Variant & gene context

Gene: WT1
Protein: p.Arg385=
Coding: c.1155G>A
MANE Select: NM_024426
dbSNP: rs776651253
Type: single nucleotide variant
Location: chr11:32396366 (GRCh38)
Gene constraint: LOEUF 0.253 · pLI 1.00 · ClinGen HI 3/3 (gnomAD)
Structure: AlphaFold pLDDT 52.09 · 31 PDB
Residue 385: a UniProt-annotated variant site (in dds)

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

Disease context

Wilms tumor 1 — disease report on Sugi Atlas → Associated genes, phenotypes, clinical trials & treatments

Also linked: Frasier syndrome WAGR syndrome Denys-Drash syndrome

Similar variants

WT1 p.Arg385Trp Uncertain significance ★★ same residue
WT1 p.Arg385Gln Conflicting classifications of pathogenicity ★ same residue
WT1 p.Arg385Leu Uncertain significance ★ same residue
WT1 p.Arg385Pro Uncertain significance ★ same residue
WT1 p.Arg385fs Pathogenic/Likely pathogenic ★★ same residue
WT1 p.Arg385Gly Uncertain significance ★ same residue
WT1 c.1354+2T>C Pathogenic/Likely pathogenic ★★ same condition
WT1 c.1447+2T>C 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/wt1-p-arg385 (accessed [today's date]).

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