Is DMD p.Phe3386fs (c.10157_10158del) pathogenic?

DMD p.Phe3386fs (c.1015710158del) is classified Pathogenic/Likely pathogenic in DMD (ClinVar, Multiple submitters, 2 submitters; last evaluated 2025-12-17). Associated with Cardiovascular phenotype.

What condition is associated with DMD p.Phe3386fs (c.10157_10158del)?

DMD p.Phe3386fs (c.10157_10158del) is associated with Cardiovascular phenotype (ClinVar).

DMD p.Phe3386fs

c.10157_10158del · VCV4613984

Pathogenic/Likely pathogenic Multiple submitters

Classification

Pathogenic/Likely pathogenic

ClinVar

Review

Multiple submitters ★★☆☆

ClinVar · 2 submitters

Consequence

frameshift

predicted LoF

gnomAD v4.1

Rare

Conditions

Cardiovascular phenotype

Computational evidence

Protein change
Missense predictors do not apply to this variant type; conservation carries the signal.
Consequence	frameshift	predicted loss-of-function in a haploinsufficient gene (ClinGen)
NMD	predicted	premature termination codon in exon 70 of 79
Splicing
SpliceAI	—	not assessed · substitutions only
Constraint at this position
Conservation	phyloP 6	GERP 3.4, phastCons 1

Predicted loss-of-function is descriptive, not an applied PVS1 code.

Variant & gene context

Gene: DMD
Protein: p.Phe3386fs
Coding: c.10157_10158del
MANE Select: NM_004006
Type: Deletion
Location: chrX:31178734 (GRCh38)
Residue 3386: the 'interaction with synm' region

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.Ser3615del Uncertain significance ★★ same condition
DMD c.5326-3del Benign/Likely benign ★★ same condition
DMD c.1483-1534_1565del Likely pathogenic ★ same condition
DMD c.(357+1_358-1 Likely pathogenic ★ same condition
DMD c.(6912+1_6913-1 Pathogenic ★ same condition
DMD c.(7309+1_7310-1 Pathogenic ★ same condition
DMD c.(?_-127963 Likely pathogenic ★ same condition
DMD p.Asn3013fs 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-phe3386fs (accessed [today's date]).

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