Is DMD p.Gly366= (c.1098A>T) pathogenic?

DMD p.Gly366= (c.1098A>T) is classified Conflicting classifications of pathogenicity in DMD (ClinVar, Conflicting submitters, 5 submitters; last evaluated 2025-07-25). Absent from gnomAD v4.1; Associated with neuromuscular disease caused by qualitative or quantitative defects of dystrophin.

How common is DMD p.Gly366= (c.1098A>T) in the general population?

DMD p.Gly366= (c.1098A>T) is absent from gnomAD v4.1 (gnomAD).

DMD p.Gly366=

Q: What condition is associated with DMD p.Gly366= (c.1098A>T)?

DMD p.Gly366= (c.1098A>T) is associated with neuromuscular disease caused by qualitative or quantitative defects of dystrophin, Duchenne muscular dystrophy (ClinVar).

c.1098A>T · rs72470507 · VCV501598

Conflicting classifications of pathogenicity Conflicting submitters

Classification

Conflicting classifications of pathogenicity

ClinVar

Review

Conflicting submitters ★☆☆☆

ClinVar · 5 submitters

gnomAD v4.1

Absent

absent from gnomAD v4.1

Conditions

neuromuscular disease caused by qualitative or quantitative defects of dystrophin

Computational evidence

Protein change
Missense predictors do not apply to this variant type; conservation/SpliceAI carries the signal.
Splicing
SpliceAI	Δ0.98	donor gain · deltas
Pangolin	Δ0.83	gain · loss 0.00 · agrees with SpliceAI · independent
Constraint at this position
Conservation	phyloP 2.3	GERP -1.9, phastCons 1
Overall
CADD	22.4	PHRED · no single calibrated threshold — expert panels disagree

Population frequency

gnomAD v4.1 · exomes + genomes

Absent from gnomAD v4.1. Not observed in any sequenced alleles — a rarity signal (ACMG PM2-supporting), not evidence of pathogenicity on its own.

Variant & gene context

Gene: DMD
Protein: p.Gly366=
Coding: c.1098A>T
MANE Select: NM_004006
dbSNP: rs72470507
Type: single nucleotide variant
Location: chrX:32645015 (GRCh38)

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

Disease context

neuromuscular disease caused by qualitative or quantitative defects of dystrophin — disease report on Sugi Atlas → Associated genes, phenotypes, clinical trials & treatments

Also linked: Duchenne muscular dystrophy

Similar variants

DMD p.Gly366Glu Conflicting classifications of pathogenicity ★ ⚠ same residue
DMD p.Gly366Val 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
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-gly366 (accessed [today's date]).

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