Is DMD p.Arg768Gln (c.2303G>A) pathogenic?

DMD p.Arg768Gln (c.2303G>A) is classified Uncertain significance in DMD (ClinVar, Multiple submitters, 2 submitters; last evaluated 2026-01-27). AlphaMissense: likely benign (0.1046); Ultra-rare (popmax 0.0111%, amr); Associated with Duchenne and Becker muscular dystrophy.

What condition is associated with DMD p.Arg768Gln (c.2303G>A)?

DMD p.Arg768Gln (c.2303G>A) is associated with Duchenne and Becker muscular dystrophy, Duchenne muscular dystrophy (ClinVar).

How common is DMD p.Arg768Gln (c.2303G>A) in the general population?

DMD p.Arg768Gln (c.2303G>A) is ultra-rare (popmax 0.0111%, amr) (gnomAD).

What do computational predictors say about DMD p.Arg768Gln (c.2303G>A)?

AlphaMissense predicts likely benign (score 0.1046) — an in-silico prediction, not a clinical call.

DMD p.Arg768Gln

c.2303G>A · rs769377296 · VCV1462304

Uncertain significance Multiple submitters

Classification

Uncertain significance

ClinVar

Review

Multiple submitters ★★☆☆

ClinVar · 2 submitters

AlphaMissense

likely benign

0.1046 · ACMG-weighted

gnomAD v4.1

Rare

ultra-rare (popmax 0.0111%, amr)

Missense predictors

0/2 damaging

AlphaMissense, REVEL

Conditions

Duchenne and Becker muscular dystrophy

Computational evidence

Protein change
AlphaMissense	0.1046	likely benign
REVEL	0.096	moderately benign-leaning
⇒ AlphaMissense and REVEL both call this tolerated.
Splicing
SpliceAI	—	not assessed · no allele here is in the release
Constraint at this position
Conservation	phyloP 4.7	GERP 6.6, phastCons 1
Regional constraint	o/e 1.36	unconstrained · MANE · 1,863 kb · p 2.4e-62 · regional, not allelic
Overall
CADD	22.2	PHRED · no single calibrated threshold — expert panels disagree

ClinVar classifies this uncertain; the computational predictors unanimously lean tolerated — a triage signal, not a reclassification

AlphaMissense carries the ACMG weight for missense; REVEL and SaProt are independent agreement signals.

Population frequency

gnomAD v4.1 · exomes + genomes

Grpmax group 0.0111% Admixed American · 5/45,182 alleles

Filtering AF 0.00432% ClinGen BA1/BS1 input FAF95, joint · FAF99 0.00274%

Overall 0.00125% 15/1,198,907 alleles · ultra-rare

Ancestry group	Frequency	1 in
Admixed Americangrpmax	0.0111%	9,036
East Asian	0.00297%	33,690
Remaining individualsnot grpmax-eligible	0.00212%	47,240
European (non-Finnish)	0.000902%	110,905

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.Arg768Gln
Coding: c.2303G>A
MANE Select: NM_004006
dbSNP: rs769377296
Type: single nucleotide variant
Location: chrX:32501832 (GRCh38)

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

Disease context

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

Also linked: Duchenne muscular dystrophy

Similar variants

DMD p.Arg768Ter Pathogenic ★★ same residue
DMD p.Arg768Gly Uncertain significance ★★ ⚠ same residue
DMD p.Arg768= Likely benign ★ 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-arg768gln (accessed [today's date]).

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