Is DMD p.Arg2523fs (c.7569_7571delinsTT) pathogenic?

DMD p.Arg2523fs (c.75697571delinsTT) is classified Likely pathogenic in DMD (ClinVar, Single submitter, 1 submitter; last evaluated 2023-06-22). Associated with Duchenne muscular dystrophy.

What condition is associated with DMD p.Arg2523fs (c.7569_7571delinsTT)?

DMD p.Arg2523fs (c.7569_7571delinsTT) is associated with Duchenne muscular dystrophy (ClinVar).

How is Duchenne muscular dystrophy inherited?

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

DMD p.Arg2523fs

c.7569_7571delinsTT · VCV3377701

Likely pathogenic Single submitter

Classification

Likely 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 52 of 79
Splicing
SpliceAI	—	not assessed · substitutions only
Constraint at this position
Conservation	phyloP 2.2	GERP 0.78, phastCons 1

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

Variant & gene context

Gene: DMD
Protein: p.Arg2523fs
Coding: c.7569_7571delinsTT
MANE Select: NM_004006
Type: Indel
Location: chrX:31729720 (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

For Duchenne muscular dystrophy (Orphanet):

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

Similar variants

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DMD p.Met1313_Arg1314delinsIleTer Pathogenic/Likely pathogenic ★★ same condition
DMD p.Glu2854Thr Uncertain significance ★★ same condition
DMD p.Ser2464Ile Uncertain significance ★★ same condition
DMD c.832-18_832-17delinsGA Benign/Likely benign ★★ same condition
DMD c.10224-6_10249delinsACT Likely pathogenic ★ same condition
DMD c.2278_2292+101delinsTGATAAA Likely pathogenic ★ same condition
DMD c.358-551_369delinsTTCTTTTCAGTTCAGCCAATAAATATAGCTTGCGTTAAATGATGGTATGAAATGATGGT 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-arg2523fs (accessed [today's date]).

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