Is WDR26 p.Pro628fs (c.1881dup) pathogenic?

WDR26 p.Pro628fs (c.1881dup) is classified Likely pathogenic in WDR26 (ClinVar, Single submitter, 1 submitter; last evaluated 2022-09-15). No gnomAD frequency available for this variant; Associated with Skraban-Deardorff syndrome.

What condition is associated with WDR26 p.Pro628fs (c.1881dup)?

WDR26 p.Pro628fs (c.1881dup) is associated with Skraban-Deardorff syndrome (ClinVar).

How common is WDR26 p.Pro628fs (c.1881dup) in the general population?

WDR26 p.Pro628fs (c.1881dup) is no gnomAD frequency available for this variant (gnomAD).

WDR26 p.Pro628fs

Q: How is Intellectual disability-seizures-abnormal gait-facial dysmorphism syndrome inherited?

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

c.1881dup · rs2464681125 · VCV2431384

Likely pathogenic Single submitter

Classification

Likely 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

Skraban-Deardorff 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 11 of 14
Splicing
SpliceAI	—	not assessed · substitutions only
Constraint at this position
Conservation	phyloP 12	GERP 2.3, 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: WDR26
Protein: p.Pro628fs
Coding: c.1881dup
MANE Select: NM_001379403
dbSNP: rs2464681125
Type: Duplication
Location: chr1:224398577 (GRCh38)
Gene constraint: LOEUF 0.144 · pLI 1.00 · ClinGen HI 3/3 (gnomAD)
Structure: AlphaFold pLDDT 81.30 · 4 PDB
Residue 628: a UniProt-annotated variant site (in skdeas); a UniProt-annotated variant site (in skdeas; uncertain significance)

Full WDR26 gene report on Sugi Atlas → Gene function, pathways, protein structure, interactions & more

Disease context

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

For Intellectual disability-seizures-abnormal gait-facial dysmorphism syndrome (Orphanet):

Inheritance: Autosomal dominant
Onset: Infancy

Similar variants

WDR26 p.Pro284fs Pathogenic ★ same condition
WDR26 p.Ser165fs Pathogenic ★ same condition
WDR26 p.Ser24fs Pathogenic ★ same condition
WDR26 p.Thr347fs Pathogenic ★ same condition
WDR26 p.Arg658fs Pathogenic ★★ same condition
WDR26 p.Asp735Gly Pathogenic/Likely pathogenic ★★ same condition
WDR26 p.Ala154Pro Uncertain significance ★★ ⚠ same condition
WDR26 p.Arg639Gln 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/wdr26-p-pro628fs (accessed [today's date]).

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