Is DYSF c.1399dupG pathogenic?

DYSF c.1399dupG is classified Likely pathogenic in DYSF (ClinVar, Single submitter, 1 submitter; last evaluated 2025-03-16). Associated with autosomal recessive limb-girdle muscular dystrophy type 2B.

What condition is associated with DYSF c.1399dupG?

DYSF c.1399dupG is associated with autosomal recessive limb-girdle muscular dystrophy type 2B (ClinVar).

DYSF c.1399dupG

Q: How is Dysferlin-related limb-girdle muscular dystrophy R2 inherited?

Typically Autosomal recessive (Orphanet). A genetic counselor can assess individual risk for a family.

VCV4815125

Likely pathogenic Single submitter

Classification

Likely pathogenic

ClinVar

Review

Single submitter ★☆☆☆

ClinVar · 1 submitter

gnomAD v4.1

Rare

Conditions

autosomal recessive limb-girdle muscular dystrophy type 2B

Computational evidence

Protein change
Missense predictors do not apply to this variant type; conservation carries the signal.
Splicing
SpliceAI	—	not assessed · substitutions only
Constraint at this position
Conservation	phyloP 11	GERP 2.2, phastCons 1
Non-coding constraint	Z 1.13	1 kb window · o/e 0.88 · regional · uncalibrated

Variant & gene context

Gene: DYSF
Coding: c.1399dupG
MANE Select: NM_001130987 · reported on NM_003494
Type: Duplication
Location: chr2:71539155 (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 type 2B — disease report on Sugi Atlas → Associated genes, phenotypes, clinical trials & treatments

For Dysferlin-related limb-girdle muscular dystrophy R2 (Orphanet):

Inheritance: Autosomal recessive
Onset: Adolescent, Adult
Prevalence: 1-9 / 1 000 000 (United Kingdom)

Similar variants

DYSF c.1267_1276+4dup Pathogenic ★★★ same condition
DYSF c.1274_1276+4dup Likely pathogenic ★★★ same condition
DYSF c.1493+2dup Pathogenic ★★★ same condition
DYSF p.Asp320fs Pathogenic ★★★ same condition
DYSF p.Asp497fs Pathogenic ★★★ same condition
DYSF p.Glu2033fs Pathogenic ★★★ same condition
DYSF p.Ile1036Hisfs Pathogenic ★★★ same condition
DYSF p.Lys1169Glnfs 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-1399dupg (accessed [today's date]).

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