Is DMD p.Gln673Glu (c.2017C>G) pathogenic?

DMD p.Gln673Glu (c.2017C>G) is classified Uncertain significance in DMD (ClinVar, Multiple submitters, 2 submitters; last evaluated 2024-12-27). AlphaMissense: likely benign (0.0832); Very rare (popmax 0.00435%, amr); Associated with dilated cardiomyopathy 3B.

What condition is associated with DMD p.Gln673Glu (c.2017C>G)?

DMD p.Gln673Glu (c.2017C>G) is associated with dilated cardiomyopathy 3B, Becker muscular dystrophy, Duchenne muscular dystrophy (ClinVar).

How common is DMD p.Gln673Glu (c.2017C>G) in the general population?

DMD p.Gln673Glu (c.2017C>G) is very rare (popmax 0.00435%, amr) (gnomAD).

What do computational predictors say about DMD p.Gln673Glu (c.2017C>G)?

AlphaMissense predicts likely benign (score 0.0832) — an in-silico prediction, not a clinical call.

DMD p.Gln673Glu

c.2017C>G · rs128626232 · VCV1467637

Uncertain significance Multiple submitters

Classification

Uncertain significance

ClinVar

Review

Multiple submitters ★★☆☆

ClinVar · 2 submitters

AlphaMissense

likely benign

0.0832 · ACMG-weighted

gnomAD v4.1

Rare

very rare (popmax 0.00435%, amr)

Missense predictors

0/2 damaging

AlphaMissense, REVEL

Conditions

dilated cardiomyopathy 3B

Computational evidence

Protein change
AlphaMissense	0.0832	likely benign
REVEL	0.24	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 8.7	GERP 1.6, phastCons 1
Regional constraint	o/e 1.36	unconstrained · MANE · 1,863 kb · p 2.4e-62 · regional, not allelic
Overall
CADD	20.6	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 0.00435% Admixed American · 2/45,946 alleles

Filtering AF 0.000722% ClinGen BA1/BS1 input FAF95, joint · FAF99 0.00027%

Overall 0.000182% 2/1,097,279 alleles · very rare

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.Gln673Glu
Coding: c.2017C>G
MANE Select: NM_004006
dbSNP: rs128626232
Type: single nucleotide variant
Location: chrX:32545310 (GRCh38)

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

Disease context

dilated cardiomyopathy 3B — disease report on Sugi Atlas → Associated genes, phenotypes, clinical trials & treatments

Also linked: Becker muscular dystrophy Duchenne muscular dystrophy

Similar variants

DMD p.Gln673Ter Pathogenic ★★ same residue
DMD p.Gln673= Likely benign ★★ same residue
DMD p.Gln673fs Pathogenic ★ 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-gln673glu (accessed [today's date]).

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