Is DMD p.Val2492= (c.7476T>C) pathogenic?

DMD p.Val2492= (c.7476T>C) is classified Benign/Likely benign in DMD (ClinVar, Multiple submitters, 15 submitters; last evaluated 2026-02-01). Low-frequency (popmax 2.02%, afr); Associated with Becker muscular dystrophy.

What condition is associated with DMD p.Val2492= (c.7476T>C)?

DMD p.Val2492= (c.7476T>C) is associated with Becker muscular dystrophy, cardiomyopathy, dilated cardiomyopathy 3B (ClinVar).

How common is DMD p.Val2492= (c.7476T>C) in the general population?

DMD p.Val2492= (c.7476T>C) is low-frequency (popmax 2.02%, afr) (gnomAD).

How is Becker muscular dystrophy inherited?

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

DMD p.Val2492=

c.7476T>C · rs142153424 · VCV94765

Benign/Likely benign Multiple submitters

Classification

Benign/Likely benign

ClinVar

Review

Multiple submitters ★★☆☆

ClinVar · 15 submitters

gnomAD v4.1

Rare

low-frequency (popmax 2.02%, afr)

Conditions

Becker muscular dystrophy

Computational evidence

Protein change
Missense predictors do not apply to this variant type; conservation carries the signal.
REVEL	0.029	moderately benign-leaning
Splicing
SpliceAI	—	not assessed · no allele here is in the release
Constraint at this position
Conservation	phyloP 1.4	GERP -2.6, phastCons 0.68
Overall
CADD	4.952	PHRED · no single calibrated threshold — expert panels disagree

Population frequency

gnomAD v4.1 · exomes + genomes

Grpmax group 2.02% African / African-American · 1,137/56,378 alleles

Filtering AF 1.92% ClinGen BA1/BS1 input FAF95, joint · FAF99 1.88%

Overall 0.107% 1,290/1,207,387 alleles · low-frequency

Ancestry group	Frequency	1 in
African / African-Americangrpmax	2.02%	50
Remaining individualsnot grpmax-eligible	0.16%	626
Admixed American	0.124%	808
Middle Eastern	0.092%	1,086
South Asian	0.0053%	18,872
European (non-Finnish)	0.00156%	63,908

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.Val2492=
Coding: c.7476T>C
MANE Select: NM_004006
dbSNP: rs142153424
Type: single nucleotide variant
Location: chrX:31774026 (GRCh38)

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

Disease context

Becker muscular dystrophy — disease report on Sugi Atlas → Associated genes, phenotypes, clinical trials & treatments

Also linked: cardiomyopathy dilated cardiomyopathy 3B Duchenne muscular dystrophy

For Becker muscular dystrophy (Orphanet):

Inheritance: X-linked recessive
Onset: Adolescent, Adult, Childhood, Elderly
Prevalence: 1-9 / 100 000 (Europe)

Similar variants

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
DMD c.10224-2A>G Likely pathogenic ★★ same condition
DMD c.10554-2A>G Pathogenic/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-val2492 (accessed [today's date]).

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