Is DYSF p.Ala829fs (c.2483_2484dup) pathogenic?

DYSF p.Ala829fs (c.24832484dup) is classified Pathogenic in DYSF (ClinVar, Single submitter, 1 submitter; last evaluated 2023-11-20). Absent from gnomAD; Associated with neuromuscular disease caused by qualitative or quantitative defects of dysferlin.

What condition is associated with DYSF p.Ala829fs (c.2483_2484dup)?

DYSF p.Ala829fs (c.2483_2484dup) is associated with neuromuscular disease caused by qualitative or quantitative defects of dysferlin (ClinVar).

How common is DYSF p.Ala829fs (c.2483_2484dup) in the general population?

DYSF p.Ala829fs (c.2483_2484dup) is absent from gnomAD (gnomAD).

DYSF p.Ala829fs

c.2483_2484dup · rs2545769842 · VCV2697712

Pathogenic Single submitter

Classification

Pathogenic

ClinVar

Review

Single submitter ★☆☆☆

ClinVar · 1 submitter

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 24 of 56
Splicing
SpliceAI	—	not assessed · substitutions only
Constraint at this position
Conservation	phyloP 0.16	GERP -4.5, phastCons 0.18

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.Ala829fs
Coding: c.2483_2484dup
MANE Select: NM_001130987
dbSNP: rs2545769842
Type: Duplication
Location: chr2:71564129 (GRCh38)
Gene constraint: LOEUF 0.836 · pLI <0.01 (gnomAD)
Structure: AlphaFold pLDDT 79.25 · 11 PDB
Residue 829: a turn

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.Ala829Val Uncertain significance ★★ ⚠ same residue
DYSF p.Ala829= Likely benign ★★ same residue
DYSF p.Ala829Thr Conflicting classifications of pathogenicity ★ ⚠ same residue
DYSF c.1274_1276+4dup Likely pathogenic ★★★ same condition
DYSF p.Asn44fs Pathogenic ★★★ same condition
DYSF p.Asp320fs Pathogenic ★★★ same condition
DYSF p.Asp497fs Pathogenic ★★★ same condition
DYSF p.Glu2033fs 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-ala829fs (accessed [today's date]).

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