What condition is associated with DYSF p.Val1127fs (c.3378_3385delinsCACTGGAGAAGACGGGGCC)?

DYSF p.Val1127fs (c.3378_3385delinsCACTGGAGAAGACGGGGCC) is associated with neuromuscular disease caused by qualitative or quantitative defects of dysferlin (ClinVar).

DYSF p.Val1127fs

Q: Is DYSF p.Val1127fs (c.3378_3385delinsCACTGGAGAAGACGGGGCC) pathogenic?

DYSF p.Val1127fs (c.33783385delinsCACTGGAGAAGACGGGGCC) is classified Pathogenic in DYSF (ClinVar, Single submitter, 1 submitter; last evaluated 2024-04-09). Associated with neuromuscular disease caused by qualitative or quantitative defects of dysferlin.

c.3378_3385delinsCACTGGAGAAGACGGGGCC · VCV3649295

Pathogenic Single submitter

Classification

Pathogenic

ClinVar

Review

Single submitter ★☆☆☆

ClinVar · 1 submitter

Consequence

frameshift

predicted LoF

gnomAD v4.1

Rare

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 30 of 56
Splicing
SpliceAI	—	not assessed · substitutions only
Constraint at this position
Conservation	phyloP -6.3	GERP -1.4

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

Variant & gene context

Gene: DYSF
Protein: p.Val1127fs
Coding: c.3378_3385delinsCACTGGAGAAGACGGGGCC
MANE Select: NM_001130987
Type: Indel
Location: chr2:71574347 (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

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

Similar variants

DYSF p.Tyr1166_Gly1167delinsTer Pathogenic ★★★ same condition
DYSF p.Asp336Ile Uncertain significance ★★ same condition
DYSF p.Glu453Gln Uncertain significance ★★ same condition
DYSF c.1150-43_1155delinsA Likely pathogenic ★ same condition
DYSF p.Cys1006_Pro1007delinsTer Pathogenic ★ same condition
DYSF p.Leu734fs Pathogenic ★ same condition
DYSF c.951+4_951+5delinsCC Uncertain significance ★ same condition
DYSF p.Glu1287Met Uncertain significance ★ 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-val1127fs (accessed [today's date]).

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