Is DMD p.Ala1743fs (c.5228del) pathogenic?

DMD p.Ala1743fs (c.5228del) is classified Likely pathogenic in DMD (ClinVar, Single submitter, 1 submitter; last evaluated 2025-06-23). Associated with Becker muscular dystrophy, Cardiomyopathy, Duchenne muscular dystrophy, Dystrophin deficiency.

DMD p.Ala1743fs

Q: What condition is associated with DMD p.Ala1743fs (c.5228del)?

DMD p.Ala1743fs (c.5228del) is associated with Becker muscular dystrophy, Cardiomyopathy, Duchenne muscular dystrophy, Dystrophin deficiency (ClinVar).

c.5228del · VCV4815313

Likely pathogenic Single submitter

Classification

Likely pathogenic

ClinVar

Review

Single submitter ★☆☆☆

ClinVar · 1 submitter

Consequence

frameshift

predicted LoF

gnomAD v4.1

Rare

Conditions

Becker muscular dystrophy, Cardiomyopathy, Duchenne muscular dystrophy, Dystrophin deficiency

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 37 of 79
Splicing
SpliceAI	—	not assessed · substitutions only
Constraint at this position
Conservation	phyloP -0.14	GERP -4.5, phastCons 0.56

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

Variant & gene context

Gene: DMD
Protein: p.Ala1743fs
Coding: c.5228del
MANE Select: NM_004006
Type: Deletion
Location: chrX:32362885 (GRCh38)
Residue 1743: the 'interaction with synm' region

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

Disease context

Becker muscular dystrophy, Cardiomyopathy, Duchenne muscular dystrophy, Dystrophin deficiency

Similar variants

DMD p.Arg3384fs Pathogenic/Likely pathogenic ★★ same condition
DMD p.Pro3484_Leu3485insTer Pathogenic ★★ same condition
DMD p.Ser1513fs Pathogenic ★★ same condition
DMD c.1483-8_1500del Likely pathogenic ★ same condition
DMD c.1812+1del Pathogenic ★ same condition
DMD c.264_264+4del Pathogenic ★ same condition
DMD c.6118-2del Pathogenic ★ same condition
DMD c.8547+1del 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-ala1743fs (accessed [today's date]).

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