Is DMD p.Ser329fs (c.985_991del) pathogenic?

DMD p.Ser329fs (c.985991del) is classified Pathogenic in DMD (ClinVar, Single submitter, 1 submitter). Associated with Duchenne muscular dystrophy.

What condition is associated with DMD p.Ser329fs (c.985_991del)?

DMD p.Ser329fs (c.985_991del) is associated with Duchenne muscular dystrophy, Becker muscular dystrophy, dilated cardiomyopathy 3B (ClinVar).

How is Duchenne muscular dystrophy inherited?

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

DMD p.Ser329fs

c.985_991del · VCV3382430

Pathogenic Single submitter

Classification

Pathogenic

ClinVar

Review

Single submitter ★☆☆☆

ClinVar · 1 submitter

Consequence

frameshift

predicted LoF

gnomAD v4.1

Rare

Conditions

Duchenne muscular dystrophy

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 10 of 79
Splicing
SpliceAI	—	not assessed · substitutions only
Constraint at this position
Conservation	phyloP 3.9	GERP 2.1, phastCons 1

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

Variant & gene context

Gene: DMD
Protein: p.Ser329fs
Coding: c.985_991del
MANE Select: NM_004006
Type: Deletion
Location: chrX:32645122 (GRCh38)

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

Disease context

Duchenne muscular dystrophy — disease report on Sugi Atlas → Associated genes, phenotypes, clinical trials & treatments

Also linked: Becker muscular dystrophy dilated cardiomyopathy 3B

For Duchenne muscular dystrophy (Orphanet):

Inheritance: X-linked recessive
Onset: Childhood
Prevalence: 1-9 / 100 000 (Worldwide)

Similar variants

DMD p.Ser329Ter Pathogenic/Likely pathogenic ★★ same residue
DMD p.Ser329Leu Uncertain significance ★ ⚠ same residue
DMD p.Ser329Pro Uncertain significance ★ ⚠ same residue
DMD p.Ser329Thr Conflicting classifications of pathogenicity ★ ⚠ same residue
DMD p.Ser329= Likely benign ★ same residue
DMD c.1813-29_1813-2del Likely pathogenic ★★ same condition
DMD c.2804-1del Pathogenic ★★ same condition
DMD c.3433-5_3434del 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-ser329fs (accessed [today's date]).

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