Is DMD p.Gln1144= (c.3432G>A) pathogenic?

DMD p.Gln1144= (c.3432G>A) is classified Likely pathogenic in DMD (ClinVar, Multiple submitters, 2 submitters; last evaluated 2025-10-20). Absent from gnomAD v4.1; Associated with Cardiovascular phenotype.

What condition is associated with DMD p.Gln1144= (c.3432G>A)?

DMD p.Gln1144= (c.3432G>A) is associated with Cardiovascular phenotype (ClinVar).

How common is DMD p.Gln1144= (c.3432G>A) in the general population?

DMD p.Gln1144= (c.3432G>A) is absent from gnomAD v4.1 (gnomAD).

DMD p.Gln1144=

c.3432G>A · VCV4066549

Likely pathogenic Multiple submitters

Classification

Likely pathogenic

ClinVar

Review

Multiple submitters ★★☆☆

ClinVar · 2 submitters

gnomAD v4.1

Absent

absent from gnomAD v4.1

Conditions

Cardiovascular phenotype

Computational evidence

Protein change
Missense predictors do not apply to this variant type; conservation/SpliceAI carries the signal.
Splicing
SpliceAI	Δ0.98	donor loss · deltas
Pangolin	Δ0.79	loss · gain 0.01 · agrees with SpliceAI · independent
Constraint at this position
Conservation	phyloP 5.9	GERP 1.1, phastCons 1
Overall
CADD	18.34	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.Gln1144=
Coding: c.3432G>A
MANE Select: NM_004006
Type: single nucleotide variant
Location: chrX:32463439 (GRCh38)

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

Disease context

Cardiovascular phenotype — disease report on Sugi Atlas → Associated genes, phenotypes, clinical trials & treatments

Similar variants

DMD p.Gln1144His Likely pathogenic ★ same residue
DMD p.Gln1144Ter Likely pathogenic ★ same residue
DMD p.Gln1144Pro Uncertain significance ★ same residue
DMD c.2804-2A>C Pathogenic/Likely pathogenic ★★ same condition
DMD c.31+1G>C Pathogenic ★★ same condition
DMD c.3432+2036A>G Pathogenic/Likely pathogenic ★★ same condition
DMD c.3433-1G>A Pathogenic ★★ same condition
DMD c.357+1G>T 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-gln1144 (accessed [today's date]).

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