Is DMD p.Ser3066= (c.9198G>A) pathogenic?

DMD p.Ser3066= (c.9198G>A) is classified Conflicting classifications of pathogenicity in DMD (ClinVar, Conflicting submitters, 5 submitters; last evaluated 2026-01-24). Very rare (popmax 0.00877%, afr); Associated with Cardiovascular phenotype.

What condition is associated with DMD p.Ser3066= (c.9198G>A)?

DMD p.Ser3066= (c.9198G>A) is associated with Cardiovascular phenotype, cardiomyopathy, Becker muscular dystrophy (ClinVar).

How common is DMD p.Ser3066= (c.9198G>A) in the general population?

DMD p.Ser3066= (c.9198G>A) is very rare (popmax 0.00877%, afr) (gnomAD).

DMD p.Ser3066=

c.9198G>A · rs753594128 · VCV198319

Conflicting classifications of pathogenicity Conflicting submitters

Classification

Conflicting classifications of pathogenicity

ClinVar

Review

Conflicting submitters ★☆☆☆

ClinVar · 5 submitters

gnomAD v4.1

Rare

very rare (popmax 0.00877%, afr)

Conditions

Cardiovascular phenotype

Computational evidence

Protein change
Missense predictors do not apply to this variant type; conservation carries the signal.
REVEL	0.355	indeterminate
Splicing
SpliceAI	<0.2	no splice effect predicted · four deltas, not one · how we know
Constraint at this position
Conservation	phyloP -2.6	GERP -4.3
Overall
CADD	3.611	PHRED · no single calibrated threshold — expert panels disagree

Population frequency

gnomAD v4.1 · exomes + genomes

Grpmax group 0.00877% African / African-American · 5/57,036 alleles

Filtering AF 0.00339% ClinGen BA1/BS1 input FAF95, joint · FAF99 0.00216%

Overall 0.000745% 9/1,208,183 alleles · very rare exomes 4/1,096,838 · genomes 5/111,345 · joint denominator

Ancestry group	Frequency	1 in
African / African-Americangrpmax	0.00877%	11,407
South Asian	0.00354%	28,278
European (non-Finnish)	0.000224%	447,101

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.Ser3066=
Coding: c.9198G>A
MANE Select: NM_004006
dbSNP: rs753594128
Type: single nucleotide variant
Location: chrX:31323624 (GRCh38)
Residue 3066: the ww domain; the 'interaction with synm' region

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.Ser3066Ter Pathogenic ★ same residue
DMD p.Ser3066Leu 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

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-ser3066 (accessed [today's date]).

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