Is DCAF17 p.Lys84fs (c.252_262del) pathogenic?

DCAF17 p.Lys84fs (c.252262del) is classified Pathogenic in DCAF17 (ClinVar, Single submitter, 1 submitter; last evaluated 2025-12-09). Associated with Woodhouse-Sakati syndrome.

What condition is associated with DCAF17 p.Lys84fs (c.252_262del)?

DCAF17 p.Lys84fs (c.252_262del) is associated with Woodhouse-Sakati syndrome (ClinVar).

How is Woodhouse-Sakati syndrome inherited?

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

DCAF17 p.Lys84fs

c.252_262del · VCV4732789

Pathogenic Single submitter

Classification

Pathogenic

ClinVar

Review

Single submitter ★☆☆☆

ClinVar · 1 submitter

Consequence

frameshift

predicted LoF

gnomAD v4.1

Rare

Conditions

Woodhouse-Sakati syndrome

Computational evidence

Protein change
Missense predictors do not apply to this variant type; conservation carries the signal.
Consequence	frameshift	predicted loss-of-function
NMD	predicted	premature termination codon in exon 3 of 14
Splicing
SpliceAI	—	not assessed · substitutions only
Constraint at this position
Conservation	phyloP 7.6	GERP 1.6, phastCons 1

Predicted loss-of-function is descriptive, not an applied PVS1 code.

Variant & gene context

Gene: DCAF17
Protein: p.Lys84fs
Coding: c.252_262del
MANE Select: NM_025000
Type: Deletion
Location: chr2:171443540 (GRCh38)
Gene constraint: LOEUF 0.855 · pLI <0.01 (gnomAD)
Structure: AlphaFold pLDDT 87.38

Full DCAF17 gene report on Sugi Atlas → Gene function, pathways, protein structure, interactions & more

Disease context

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

For Woodhouse-Sakati syndrome (Orphanet):

Inheritance: Autosomal recessive
Onset: Adolescent, Childhood

Similar variants

DCAF17 p.Ala147fs Pathogenic ★★ same condition
DCAF17 p.Gly138fs Pathogenic/Likely pathogenic ★★ same condition
DCAF17 c.322-14_322-11del Benign/Likely benign ★★ same condition
DCAF17 c.322-3del Benign/Likely benign ★★ same condition
DCAF17 p.Ala351fs Pathogenic ★ same condition
DCAF17 p.Asp251fs Pathogenic ★ same condition
DCAF17 p.Gly299fs Pathogenic ★ same condition
DCAF17 p.His185fs 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/dcaf17-p-lys84fs (accessed [today's date]).

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