Is DMD p.Glu1425= (c.4275A>G) pathogenic?

DMD p.Glu1425= (c.4275A>G) is classified Benign in DMD (ClinVar, Multiple submitters, 13 submitters; last evaluated 2026-02-02). Common (popmax 5.96%, sas) — too common for a highly-penetrant pathogenic allele; Associated with dilated cardiomyopathy 3B.

What condition is associated with DMD p.Glu1425= (c.4275A>G)?

DMD p.Glu1425= (c.4275A>G) is associated with dilated cardiomyopathy 3B, cardiomyopathy, Becker muscular dystrophy (ClinVar).

DMD p.Glu1425=

Q: How common is DMD p.Glu1425= (c.4275A>G) in the general population?

DMD p.Glu1425= (c.4275A>G) is common (popmax 5.96%, sas) — too common for a highly-penetrant pathogenic allele (gnomAD).

c.4275A>G · rs72468647 · VCV94618

Benign Multiple submitters

Classification

Benign

ClinVar

Review

Multiple submitters ★★☆☆

ClinVar · 13 submitters

gnomAD v4.1

Common

common (popmax 5.96%, sas) — too common for a highly-penetrant pathogenic allele

Conditions

dilated cardiomyopathy 3B

Computational evidence

Protein change
Missense predictors do not apply to this variant type; conservation carries the signal.
Splicing
SpliceAI	—	not assessed · no allele here is in the release
Constraint at this position
Conservation	phyloP 1.2	GERP -0.97, phastCons 1
Overall
CADD	6.414	PHRED · no single calibrated threshold — expert panels disagree

Population frequency

gnomAD v4.1 · exomes + genomes

Grpmax group 5.96% South Asian · 3,382/56,777 alleles

Filtering AF 5.79% ClinGen BA1/BS1 input FAF95, joint · FAF99 5.72%

Overall 0.296% 3,579/1,208,509 alleles · common

Ancestry group	Frequency	1 in
South Asiangrpmax	5.96%	17
Remaining individualsnot grpmax-eligible	0.311%	321
Middle Eastern	0.23%	434
African / African-American	0.0122%	8,181
East Asian	0.00594%	16,848
Ashkenazi Jewishnot grpmax-eligible	0.00454%	22,007
Admixed American	0.00437%	22,884
European (non-Finnish)	0.00302%	33,102

Rarity supports pathogenicity (ACMG PM2); frequency above a disease-specific BA1/BS1 threshold argues against it. A variant frequent in one ancestry group can be near-absent in others, so a single global figure can mislead.

Variant & gene context

Gene: DMD
Protein: p.Glu1425=
Coding: c.4275A>G
MANE Select: NM_004006
dbSNP: rs72468647
Type: single nucleotide variant
Location: chrX:32390140 (GRCh38)
Residue 1425: the 'interaction with synm' region

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

Disease context

dilated cardiomyopathy 3B — disease report on Sugi Atlas → Associated genes, phenotypes, clinical trials & treatments

Also linked: cardiomyopathy Becker muscular dystrophy Duchenne muscular dystrophy

Similar variants

DMD p.Glu1425Ala Uncertain significance ★★ ⚠ same residue
DMD p.Glu1425Ter Pathogenic ★ same residue
DMD c.10086+1G>A Pathogenic ★★ same condition
DMD c.10086+1G>T Pathogenic ★★ same condition
DMD c.10086+2T>C Pathogenic ★★ same condition
DMD c.10087-2A>G Pathogenic/Likely pathogenic ★★ same condition
DMD c.10223+1G>A Pathogenic ★★ same condition
DMD c.10223+1G>C 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-glu1425 (accessed [today's date]).

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