Is DCAF17 p.Val50= (c.150C>T) pathogenic?

DCAF17 p.Val50= (c.150C>T) is classified Benign in DCAF17 (ClinVar, Multiple submitters, 11 submitters; last evaluated 2026-02-04). Common (popmax 38%, afr) — too common for a highly-penetrant pathogenic allele; Associated with Woodhouse-Sakati syndrome.

What condition is associated with DCAF17 p.Val50= (c.150C>T)?

DCAF17 p.Val50= (c.150C>T) 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.Val50=

Q: How common is DCAF17 p.Val50= (c.150C>T) in the general population?

DCAF17 p.Val50= (c.150C>T) is common (popmax 38%, afr) — too common for a highly-penetrant pathogenic allele (gnomAD).

c.150C>T · rs6751956 · VCV128889

Benign Multiple submitters

Classification

Benign

ClinVar

Review

Multiple submitters ★★☆☆

ClinVar · 11 submitters

gnomAD v4.1

Common

common (popmax 38%, afr) — too common for a highly-penetrant pathogenic allele

Conditions

Woodhouse-Sakati syndrome

Computational evidence

Protein change
Missense predictors do not apply to this variant type; conservation carries the signal.
Splicing
SpliceAI	—	not assessed · no allele here is in the release
Constraint at this position
Conservation	phyloP 1	GERP -2.6, phastCons 1
Overall
CADD	11.16	PHRED · no single calibrated threshold — expert panels disagree

Population frequency

gnomAD v4.1 · exomes + genomes

Grpmax group 38% African / African-American · 28,360/74,690 alleles

Filtering AF 37.6% ClinGen BA1/BS1 input FAF95, joint · FAF99 37.4%

Overall 24.6% 395,316/1,606,478 alleles · common

Ancestry group	Frequency	1 in
African / African-Americangrpmax	38%	3
Admixed American	37.5%	3
South Asian	31.3%	3
East Asian	28.9%	3
Ashkenazi Jewishnot grpmax-eligible	27.7%	4
Remaining individualsnot grpmax-eligible	25.6%	4
Middle Eastern	25.3%	4
Finnishnot grpmax-eligible	22.7%	4
European (non-Finnish)	22.4%	4
Amishnot grpmax-eligible	22.3%	4

Rarity supports pathogenicity (ACMG PM2); frequency above a disease-specific BA1/BS1 threshold argues against it. A variant frequent in one ancestry group can be near-absent in others, so a single global figure can mislead.

Variant & gene context

Gene: DCAF17
Protein: p.Val50=
Coding: c.150C>T
MANE Select: NM_025000
dbSNP: rs6751956
Type: single nucleotide variant
Location: chr2:171435106 (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 c.127-1G>C Pathogenic/Likely pathogenic ★★ same condition
DCAF17 p.Arg194Ter Pathogenic/Likely pathogenic ★★ same condition
DCAF17 p.Met1Val Pathogenic/Likely pathogenic ★★ same condition
DCAF17 p.Trp129Ter Pathogenic ★★ same condition
DCAF17 p.Trp302Ter Pathogenic ★★ same condition
DCAF17 c.1266+4T>C Uncertain significance ★★ same condition
DCAF17 c.*126A>T Uncertain significance ★★ same condition
DCAF17 p.Ala242Thr 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/dcaf17-p-val50 (accessed [today's date]).

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