Is DYSF p.Leu60fs (c.179del) pathogenic?

DYSF p.Leu60fs (c.179del) is classified Pathogenic in DYSF (ClinVar, Multiple submitters, 3 submitters; last evaluated 2023-03-01). Absent from gnomAD; Associated with neuromuscular disease caused by qualitative or quantitative defects of dysferlin.

How common is DYSF p.Leu60fs (c.179del) in the general population?

DYSF p.Leu60fs (c.179del) is absent from gnomAD (gnomAD).

DYSF p.Leu60fs

Q: What condition is associated with DYSF p.Leu60fs (c.179del)?

DYSF p.Leu60fs (c.179del) is associated with neuromuscular disease caused by qualitative or quantitative defects of dysferlin (ClinVar).

c.179del · rs2152682705 · VCV1071301

Pathogenic Multiple submitters

Classification

Pathogenic

ClinVar

Review

Multiple submitters ★★☆☆

ClinVar · 3 submitters

Consequence

frameshift

predicted LoF

gnomAD v4.1

Not reported

no gnomAD frequency available for this variant

Conditions

neuromuscular disease caused by qualitative or quantitative defects of dysferlin

Computational evidence

Protein change
Missense predictors do not apply to this variant type; conservation carries the signal.
Consequence	frameshift	predicted loss-of-function
NMD	predicted	premature termination codon in exon 3 of 56
Splicing
SpliceAI	—	not assessed · substitutions only
Constraint at this position
Conservation	phyloP 0.73	GERP -0.37, phastCons 0.26

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

Population frequency

dbSNP / gnomAD

No gnomAD frequency available for this variant. This is missing data, not an absence: the variant may or may not be present in gnomAD. Rarity (ACMG PM2) and BA1/BS1 cannot be assessed for it.

Variant & gene context

Gene: DYSF
Protein: p.Leu60fs
Coding: c.179del
MANE Select: NM_001130987
dbSNP: rs2152682705
Type: Deletion
Location: chr2:71481910 (GRCh38)
Gene constraint: LOEUF 0.836 · pLI <0.01 (gnomAD)
Structure: AlphaFold pLDDT 79.25 · 11 PDB
Residue 60: the c2 1 domain

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

Disease context

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

Similar variants

DYSF c.951+1del Pathogenic ★★★ same condition
DYSF p.Ala927Leufs Pathogenic ★★★ same condition
DYSF p.Asp1181fs Pathogenic ★★★ same condition
DYSF p.Asp1255fs Pathogenic ★★★ same condition
DYSF p.Gln1985fs Pathogenic ★★★ same condition
DYSF p.Glu1766fs Pathogenic ★★★ same condition
DYSF p.Gly1904fs Pathogenic ★★★ same condition
DYSF p.His711fs 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-p-leu60fs (accessed [today's date]).

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