Is WAS p.Arg13fs (c.35dup) pathogenic?

WAS p.Arg13fs (c.35dup) is classified Pathogenic in WAS (ClinVar, Multiple submitters, 2 submitters; last evaluated 2022-06-22). No gnomAD frequency available for this variant; Associated with Wiskott-Aldrich syndrome.

What condition is associated with WAS p.Arg13fs (c.35dup)?

WAS p.Arg13fs (c.35dup) is associated with Wiskott-Aldrich syndrome, X-linked severe congenital neutropenia, thrombocytopenia 1 (ClinVar).

How common is WAS p.Arg13fs (c.35dup) in the general population?

WAS p.Arg13fs (c.35dup) is no gnomAD frequency available for this variant (gnomAD).

How is Wiskott-Aldrich syndrome inherited?

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

WAS p.Arg13fs

c.35dup · rs2062410421 · VCV843981

Pathogenic Multiple submitters

Classification

Pathogenic

ClinVar

Review

Multiple submitters ★★☆☆

ClinVar · 2 submitters

Consequence

frameshift

predicted LoF

gnomAD v4.1

Not reported

no gnomAD frequency available for this variant

Conditions

Wiskott-Aldrich 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 1 of 12
Splicing
SpliceAI	—	not assessed · substitutions only
Constraint at this position
Conservation	phyloP -1.6	GERP -2.6

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: WAS
Protein: p.Arg13fs
Coding: c.35dup
MANE Select: NM_000377
dbSNP: rs2062410421
Type: Duplication
Location: chrX:48683883 (GRCh38)
Structure: AlphaFold pLDDT 70.84 · 7 PDB

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

Disease context

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

Also linked: X-linked severe congenital neutropenia thrombocytopenia 1

For Wiskott-Aldrich syndrome (Orphanet):

Inheritance: Autosomal dominant, Autosomal recessive, Not applicable
Onset: Infancy, Neonatal
Prevalence: 1-9 / 1 000 000 (Europe)

Similar variants

WAS p.Arg13Ter Pathogenic ★★ same residue
WAS p.Arg13Gln Conflicting classifications of pathogenicity ★ ⚠ same residue
WAS p.Pro402_Pro404dup Uncertain significance ★★ same condition
WAS c.273+10_273+11dup Benign/Likely benign ★★ same condition
WAS c.273+11dup Benign/Likely benign ★★ same condition
WAS c.273+9_273+11dup Likely benign ★★ same condition
WAS c.560-5dup Benign/Likely benign ★★ same condition
WAS p.Ala217fs 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/was-p-arg13fs (accessed [today's date]).

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