Is DYSF c.345+1del pathogenic?

DYSF c.345+1del is classified Pathogenic in DYSF (ClinVar, Expert panel, 1 submitter; last evaluated 2026-01-23). Associated with autosomal recessive limb-girdle muscular dystrophy.

What condition is associated with DYSF c.345+1del?

DYSF c.345+1del is associated with autosomal recessive limb-girdle muscular dystrophy (ClinVar).

DYSF c.345+1del

VCV4819968

Pathogenic Expert panel

Classification

Pathogenic

ClinVar

Review

Expert panel ★★★☆

ClinVar · 1 submitter

Consequence

canonical splice-site (±1/±2)

predicted LoF

gnomAD v4.1

Rare

Conditions

autosomal recessive limb-girdle muscular dystrophy

Computational evidence

Protein change
Missense predictors do not apply to this variant type; conservation carries the signal.
Consequence	canonical splice-site (±1/±2)	predicted loss-of-function
Splicing
Splice region	donor +1	canonical splice dinucleotide (donor +1) · inside the BP7-excluded zone
SpliceAI	—	not assessed · substitutions only
Constraint at this position
Conservation	phyloP -7.7	GERP -3
Non-coding constraint	Z 3.06	1 kb window · o/e 0.79 · regional · uncalibrated

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

Variant & gene context

Gene: DYSF
Coding: c.345+1del
MANE Select: NM_001130987
Type: Deletion
Location: chr2:71503317 (GRCh38)
Gene constraint: LOEUF 0.836 · pLI <0.01 (gnomAD)
Structure: AlphaFold pLDDT 79.25 · 11 PDB

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

Disease context

autosomal recessive limb-girdle muscular dystrophy — disease report on Sugi Atlas → Associated genes, phenotypes, clinical trials & treatments

Similar variants

DYSF c.240-159_345+1237del Pathogenic ★★★ same condition
DYSF c.3756+905_3897+151del Pathogenic ★★★ same condition
DYSF c.5885-51_6063+50del Pathogenic ★★★ same condition
DYSF c.92-1496_239+950del Pathogenic ★★★ same condition
DYSF c.951+1del Pathogenic ★★★ same condition
DYSF p.Ala927Leufs Pathogenic ★★★ same condition
DYSF p.Arg1759fs Pathogenic ★★★ same condition
DYSF p.Asp1181fs 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/dysf-c-345-plus-1del (accessed [today's date]).

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