Is DMD p.Gln568= (c.1704G>A) pathogenic?

DMD p.Gln568= (c.1704G>A) is classified Uncertain significance in DMD (ClinVar, Single submitter, 1 submitter; last evaluated 2024-05-09). Very rare (popmax 0.000112%, nfe); Associated with Cardiovascular phenotype.

What condition is associated with DMD p.Gln568= (c.1704G>A)?

DMD p.Gln568= (c.1704G>A) is associated with Cardiovascular phenotype (ClinVar).

How common is DMD p.Gln568= (c.1704G>A) in the general population?

DMD p.Gln568= (c.1704G>A) is very rare (popmax 0.000112%, nfe) (gnomAD).

DMD p.Gln568=

c.1704G>A · VCV3272380

Uncertain significance Single submitter

Classification

Uncertain significance

ClinVar

Review

Single submitter ★☆☆☆

ClinVar · 1 submitter

gnomAD v4.1

Rare

very rare (popmax 0.000112%, nfe)

Conditions

Cardiovascular phenotype

Computational evidence

Protein change
Missense predictors do not apply to this variant type; conservation/SpliceAI carries the signal.
Splicing
SpliceAI	Δ0.70	donor gain · deltas
Pangolin	Δ0.76	loss · gain 0.60 · SpliceAI calls gain · independent
Constraint at this position
Conservation	phyloP 5.9	GERP 1.7, phastCons 1
Overall
CADD	24.4	PHRED · no single calibrated threshold — expert panels disagree

Population frequency

gnomAD v4.1 · exomes + genomes

Grpmax group 0.000112% European (non-Finnish) · 1/894,226 alleles

Overall 8.26e-05% 1/1,210,305 alleles · very rare exomes 1/1,096,553 · genomes 0/113,752 · joint denominator

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.Gln568=
Coding: c.1704G>A
MANE Select: NM_004006
Type: single nucleotide variant
Location: chrX:32573745 (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.Gln568Leu Uncertain significance ★★ same residue
DMD p.Gln568Pro Uncertain significance ★★ same residue
DMD p.Gln568His 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-gln568 (accessed [today's date]).

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