Is DMD p.Asp2364= (c.7092C>T) pathogenic?

DMD p.Asp2364= (c.7092C>T) is classified Likely benign in DMD (ClinVar, Multiple submitters, 3 submitters; last evaluated 2025-12-17). Ultra-rare (popmax 0.0234%, sas); Associated with Cardiovascular phenotype.

What condition is associated with DMD p.Asp2364= (c.7092C>T)?

DMD p.Asp2364= (c.7092C>T) is associated with Cardiovascular phenotype, cardiomyopathy, Becker muscular dystrophy (ClinVar).

How common is DMD p.Asp2364= (c.7092C>T) in the general population?

DMD p.Asp2364= (c.7092C>T) is ultra-rare (popmax 0.0234%, sas) (gnomAD).

DMD p.Asp2364=

c.7092C>T · rs768559703 · VCV714400

Likely benign Multiple submitters

Classification

Likely benign

ClinVar

Review

Multiple submitters ★★☆☆

ClinVar · 3 submitters

gnomAD v4.1

Rare

ultra-rare (popmax 0.0234%, sas)

Conditions

Cardiovascular phenotype

Computational evidence

Protein change
Missense predictors do not apply to this variant type; conservation carries the signal.
REVEL	0.484	indeterminate
Splicing
SpliceAI	—	not assessed · no allele here is in the release
Constraint at this position
Conservation	phyloP 1.2	GERP -0.66, phastCons 1
Overall
CADD	2.659	PHRED · no single calibrated threshold — expert panels disagree

Population frequency

gnomAD v4.1 · exomes + genomes

Grpmax group 0.0234% South Asian · 13/55,494 alleles

Filtering AF 0.0138% ClinGen BA1/BS1 input FAF95, joint · FAF99 0.0109%

Overall 0.00425% 51/1,201,319 alleles · ultra-rare

Ancestry group	Frequency	1 in
South Asiangrpmax	0.0234%	4,269
Remaining individualsnot grpmax-eligible	0.00847%	11,800
European (non-Finnish)	0.00359%	27,829
East Asian	0.00299%	33,478
African / African-American	0.00176%	56,789

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.Asp2364=
Coding: c.7092C>T
MANE Select: NM_004006
dbSNP: rs768559703
Type: single nucleotide variant
Location: chrX:31875194 (GRCh38)
Residue 2364: a UniProt-annotated variant site (in dmd)

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

Also linked: cardiomyopathy Becker muscular dystrophy Duchenne muscular dystrophy

Similar variants

DMD p.Asp2364Asn Uncertain significance ★ ⚠ same residue
DMD p.Asp2364fs Likely pathogenic ★ same residue
DMD p.Asp2364His Uncertain significance ⚠ 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

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-asp2364 (accessed [today's date]).

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