Is AR p.Phe584del (c.1747TTC[1]) pathogenic?

AR p.Phe584del (c.1747TTC[1]) is classified Pathogenic in AR (ClinVar, Single submitter, 1 submitter; last evaluated 2025-03-20). Associated with Kennedy disease.

What condition is associated with AR p.Phe584del (c.1747TTC[1])?

AR p.Phe584del (c.1747TTC[1]) is associated with Kennedy disease, androgen insensitivity syndrome (ClinVar).

How is Kennedy disease inherited?

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

AR p.Phe584del

c.1747TTC[1] · VCV3759644

Pathogenic Single submitter

Classification

Pathogenic

ClinVar

Review

Single submitter ★☆☆☆

ClinVar · 1 submitter

gnomAD v4.1

Rare

Conditions

Kennedy disease

Computational evidence

Protein change
Missense predictors do not apply to this variant type; conservation carries the signal.
Splicing
SpliceAI	—	not assessed · substitutions only
Constraint at this position
Conservation	phyloP 12	GERP 2.1, phastCons 1

Variant & gene context

Gene: AR
Protein: p.Phe584del
Coding: c.1747TTC[1]
MANE Select: NM_000044
Type: Microsatellite
Location: chrX:67643384 (GRCh38)
Structure: AlphaFold pLDDT 58.85 · 95 PDB
Residue 584: the 'interaction with hipk3' region; a DNA-binding region; an α-helix; the 'interaction with znf318' region; the 'interaction with lpxn' region

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

Disease context

Kennedy disease — disease report on Sugi Atlas → Associated genes, phenotypes, clinical trials & treatments

Also linked: androgen insensitivity syndrome

For Kennedy disease (Orphanet):

Inheritance: X-linked recessive
Onset: Adult
Prevalence: <1 / 1 000 000 (Italy)

Similar variants

AR p.Phe584Val Likely pathogenic ★ same residue
AR p.Gly462_Gly473del Uncertain significance ★★ same condition
AR p.Gln69_Gln80del Benign/Likely benign ★★ same condition
AR p.Gln69_Gln80dup Likely benign ★★ same condition
AR p.Gln71_Gln80del Benign/Likely benign ★★ same condition
AR p.Gln71_Gln80dup Benign/Likely benign ★★ same condition
AR p.Gln72_Gln80del Likely benign ★★ same condition
AR p.Gln72_Gln80dup Benign/Likely benign ★★ 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/ar-p-phe584del (accessed [today's date]).

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