Is DMD p.Arg545= (c.1635A>G) pathogenic?

DMD p.Arg545= (c.1635A>G) is classified Benign in DMD (ClinVar, Multiple submitters, 20 submitters; last evaluated 2026-02-04). Common (popmax 17.5%, mid) — too common for a highly-penetrant pathogenic allele; Associated with Cardiovascular phenotype.

What condition is associated with DMD p.Arg545= (c.1635A>G)?

DMD p.Arg545= (c.1635A>G) is associated with Cardiovascular phenotype, cardiomyopathy, Becker muscular dystrophy (ClinVar).

DMD p.Arg545=

Q: How common is DMD p.Arg545= (c.1635A>G) in the general population?

DMD p.Arg545= (c.1635A>G) is common (popmax 17.5%, mid) — too common for a highly-penetrant pathogenic allele (gnomAD).

c.1635A>G · rs5927083 · VCV94476

Benign Multiple submitters

Classification

Benign

ClinVar

Review

Multiple submitters ★★☆☆

ClinVar · 20 submitters

gnomAD v4.1

Common

common (popmax 17.5%, mid) — too common for a highly-penetrant pathogenic allele

Conditions

Cardiovascular phenotype

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 -0.1	GERP -3.3, phastCons 0.11
Overall
CADD	3.376	PHRED · no single calibrated threshold — expert panels disagree

Population frequency

gnomAD v4.1 · exomes + genomes

Grpmax group 17.5% Middle Eastern · 764/4,354 alleles

Filtering AF 16.5% ClinGen BA1/BS1 input FAF95, joint · FAF99 16.1%

Overall 12.1% 146,750/1,208,966 alleles · common exomes 132,744/1,097,254 · genomes 14,006/111,712 · joint denominator

Ancestry group	Frequency	1 in
Middle Easterngrpmax	17.5%	6
African / African-American	16%	6
Ashkenazi Jewishnot grpmax-eligible	15.6%	6
European (non-Finnish)	12.6%	8
Remaining individualsnot grpmax-eligible	12.3%	8
South Asian	12.1%	8
Amishnot grpmax-eligible	12%	8
Finnishnot grpmax-eligible	9.97%	10
Admixed American	5.59%	18
East Asian	1.18%	85

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.Arg545=
Coding: c.1635A>G
MANE Select: NM_004006
dbSNP: rs5927083
Type: single nucleotide variant
Location: chrX:32573814 (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

Also linked: cardiomyopathy Becker muscular dystrophy dilated cardiomyopathy 3B Duchenne muscular dystrophy

Similar variants

DMD p.Arg545Ser 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
DMD c.10223+1G>C Pathogenic ★★ same condition
DMD c.10224-2A>G 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-arg545 (accessed [today's date]).

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