Is DMD p.Arg782Ile (c.2345G>T) pathogenic?

DMD p.Arg782Ile (c.2345G>T) is classified Uncertain significance in DMD (ClinVar, Single submitter, 1 submitter; last evaluated 2023-11-17). AlphaMissense: ambiguous (0.4518); Very rare (popmax 0.00873%, afr); Associated with Cardiovascular phenotype.

What condition is associated with DMD p.Arg782Ile (c.2345G>T)?

DMD p.Arg782Ile (c.2345G>T) is associated with Cardiovascular phenotype (ClinVar).

How common is DMD p.Arg782Ile (c.2345G>T) in the general population?

DMD p.Arg782Ile (c.2345G>T) is very rare (popmax 0.00873%, afr) (gnomAD).

What do computational predictors say about DMD p.Arg782Ile (c.2345G>T)?

AlphaMissense predicts ambiguous (score 0.4518) — an in-silico prediction, not a clinical call.

DMD p.Arg782Ile

c.2345G>T · rs1357007720 · VCV3223647

Uncertain significance Single submitter

Classification

Uncertain significance

ClinVar

Review

Single submitter ★☆☆☆

ClinVar · 1 submitter

AlphaMissense

ambiguous

0.4518 · ACMG-weighted

gnomAD v4.1

Rare

very rare (popmax 0.00873%, afr)

Conditions

Cardiovascular phenotype

Computational evidence

Protein change
AlphaMissense	0.4518	ambiguous
REVEL	0.377	indeterminate
Splicing
SpliceAI	—	not assessed · no allele here is in the release
Constraint at this position
Conservation	phyloP 5.8	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	24.9	PHRED · no single calibrated threshold — expert panels disagree

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

Population frequency

gnomAD v4.1 · exomes + genomes

Grpmax group 0.00873% African / African-American · 5/57,250 alleles

Filtering AF 0.00338% ClinGen BA1/BS1 input FAF95, joint · FAF99 0.00215%

Overall 0.000497% 6/1,208,119 alleles · very rare

Ancestry group	Frequency	1 in
African / African-Americangrpmax	0.00873%	11,450
Remaining individualsnot grpmax-eligible	0.0021%	47,517

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.Arg782Ile
Coding: c.2345G>T
MANE Select: NM_004006
dbSNP: rs1357007720
Type: single nucleotide variant
Location: chrX:32501790 (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

Similar variants

DMD p.Arg782Ser Conflicting classifications of pathogenicity ★ ⚠ same residue
DMD p.Arg782= Conflicting classifications of pathogenicity ★ same residue
DMD p.Arg782Lys Uncertain significance ★ ⚠ same residue
DMD c.2804-2A>C Pathogenic/Likely pathogenic ★★ same condition
DMD c.31+1G>C Pathogenic ★★ same condition
DMD c.3432+2036A>G Pathogenic/Likely pathogenic ★★ same condition
DMD c.3433-1G>A Pathogenic ★★ same condition
DMD c.357+1G>T 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-arg782ile (accessed [today's date]).

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