Is DMD p.Ala528= (c.1584T>C) pathogenic?

DMD p.Ala528= (c.1584T>C) is classified Likely benign in DMD (ClinVar, No assertion criteria, 1 submitter; last evaluated 2019-06-14). Absent from gnomAD v4.1; Associated with DMD-related disorder.

What condition is associated with DMD p.Ala528= (c.1584T>C)?

DMD p.Ala528= (c.1584T>C) is associated with DMD-related disorder (ClinVar).

How common is DMD p.Ala528= (c.1584T>C) in the general population?

DMD p.Ala528= (c.1584T>C) is absent from gnomAD v4.1 (gnomAD).

DMD p.Ala528=

c.1584T>C · rs2518922146 · VCV3033871

Likely benign No assertion criteria

Classification

Likely benign

ClinVar

Review

No assertion criteria ☆☆☆☆

ClinVar · 1 submitter

gnomAD v4.1

Absent

absent from gnomAD v4.1

Conditions

DMD-related disorder

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 4	GERP 1.7, phastCons 1
Overall
CADD	7.885	PHRED · no single calibrated threshold — expert panels disagree

Population frequency

gnomAD v4.1 · exomes + genomes

Absent from gnomAD v4.1. Not observed in any sequenced alleles — a rarity signal (ACMG PM2-supporting), not evidence of pathogenicity on its own.

Variant & gene context

Gene: DMD
Protein: p.Ala528=
Coding: c.1584T>C
MANE Select: NM_004006
dbSNP: rs2518922146
Type: single nucleotide variant
Location: chrX:32595775 (GRCh38)
Residue 528: a UniProt-annotated variant site (in bmd)

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

Disease context

DMD-related disorder

Similar variants

DMD p.Ala528Ser Uncertain significance ★ ⚠ same residue
DMD p.Ala528Thr Conflicting classifications of pathogenicity ★ ⚠ same residue
DMD p.Ala528Val Uncertain significance ★ ⚠ same residue
DMD c.10223+1G>A Pathogenic ★★ same condition
DMD c.10224-2A>G Likely pathogenic ★★ same condition
DMD c.10797+1G>A Pathogenic ★★ same condition
DMD c.1150-1G>A Pathogenic ★★ same condition
DMD c.1483-1G>A Likely 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/dmd-p-ala528 (accessed [today's date]).

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