TTN p.Glu20249fs
c.60744del · VCV3754513
Likely pathogenic
Single submitter
Classification
Likely pathogenic
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
Consequence
frameshift
predicted LoF
gnomAD v4.1
Rare
Conditions
2
autosomal recessive limb-girdle muscular dystrophy type 2J
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 304 of 363 |
| Splicing | ||
| SpliceAI | — | not assessed · substitutions only |
| Constraint at this position | ||
| Conservation | phyloP 7.7 | GERP 2.9, phastCons 1 |
Predicted loss-of-function is descriptive, not an applied PVS1 code.
Variant & gene context
- Gene
- TTN
- Protein
- p.Glu20249fs
- Coding
- c.60744del
- MANE Select
- NM_001267550
- Type
- Deletion
- Location
- chr2:178590981 (GRCh38)
- Gene constraint
- LOEUF 0.479 · pLI <0.01 · ClinGen HI 2/3 (gnomAD)
- Residue 20249
- the ig-like 111 domain
Disease context
autosomal recessive limb-girdle muscular dystrophy type 2J — disease report on Sugi Atlas → Associated genes, phenotypes, clinical trials & treatmentsAlso linked: dilated cardiomyopathy 1G
For Titin-related limb-girdle muscular dystrophy R10 (Orphanet):
- Inheritance
- Autosomal recessive
- Onset
- Adolescent, Adult, Childhood
Similar variants
- TTN c.32888-1del Likely pathogenic ★★ same condition
- TTN c.49648+2del Pathogenic ★★ same condition
- TTN c.80003_80028+4del Likely pathogenic ★★ same condition
- TTN c.86822-1del Likely pathogenic ★★ same condition
- TTN p.Ala14213fs Likely pathogenic ★★ same condition
- TTN p.Ala18013fs Likely pathogenic ★★ same condition
- TTN p.Ala18143fs Likely pathogenic ★★ same condition
- TTN p.Ala19403fs Likely 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/ttn-p-glu20249fs (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown