Is DMD p.Gln1501fs (c.4500del) pathogenic?

DMD p.Gln1501fs (c.4500del) is classified Pathogenic/Likely pathogenic in DMD (ClinVar, Multiple submitters, 2 submitters; last evaluated 2025-10-12). Absent from gnomAD; Associated with Duchenne muscular dystrophy.

What condition is associated with DMD p.Gln1501fs (c.4500del)?

DMD p.Gln1501fs (c.4500del) is associated with Duchenne muscular dystrophy, neuromuscular disease caused by qualitative or quantitative defects of dystrophin (ClinVar).

How common is DMD p.Gln1501fs (c.4500del) in the general population?

DMD p.Gln1501fs (c.4500del) is absent from gnomAD (gnomAD).

How is Duchenne muscular dystrophy inherited?

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

DMD p.Gln1501fs

c.4500del · rs398123959 · VCV1696238

Pathogenic/Likely pathogenic Multiple submitters

Classification

Pathogenic/Likely pathogenic

ClinVar

Review

Multiple submitters ★★☆☆

ClinVar · 2 submitters

Consequence

frameshift

predicted LoF

gnomAD v4.1

Not reported

no gnomAD frequency available for this variant

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 32 of 79
Splicing
SpliceAI	—	not assessed · substitutions only
Constraint at this position
Conservation	phyloP 12	GERP 2.9, phastCons 1

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

Population frequency

dbSNP / gnomAD

No gnomAD frequency available for this variant. This is missing data, not an absence: the variant may or may not be present in gnomAD. Rarity (ACMG PM2) and BA1/BS1 cannot be assessed for it.

Variant & gene context

Gene: DMD
Protein: p.Gln1501fs
Coding: c.4500del
MANE Select: NM_004006
dbSNP: rs398123959
Type: Deletion
Location: chrX:32389519 (GRCh38)
Residue 1501: the 'interaction with synm' region

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: neuromuscular disease caused by qualitative or quantitative defects of dystrophin

For Duchenne muscular dystrophy (Orphanet):

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

Similar variants

DMD p.Gln1501Ter Pathogenic ★ 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
DMD c.4519-2_4523del Pathogenic ★★ same condition
DMD c.9650-4_9655del Likely pathogenic ★★ same condition
DMD p.Ala192fs Pathogenic ★★ same condition
DMD p.Ala324fs 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-gln1501fs (accessed [today's date]).

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