LMNA c.(?_1
Pathogenic
Single submitter
Classification
Pathogenic
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
Conditions
2
dilated cardiomyopathy
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type. |
Variant & gene context
- Gene
- LMNA
- Coding
- c.(?_1
- MANE Select
- NM_170707
- Type
- Deletion
- Location
- chr1:None (GRCh38)
- Gene constraint
- LOEUF 0.412 · pLI 1.00 · ClinGen HI 3/3 (gnomAD)
- Structure
- AlphaFold pLDDT 77.55 · 28 PDB
Similar variants
- LMNA p.Ala175fs Pathogenic ★★ same condition
- LMNA p.Gln255fs Pathogenic/Likely pathogenic ★★ same condition
- LMNA p.Leu320fs Pathogenic ★★ same condition
- LMNA p.Leu59fs Pathogenic ★★ same condition
- LMNA p.Glu159fs Likely pathogenic ★ same condition
- LMNA c.640-7del Likely benign ★ same condition
- LMNA c.937-6del Likely benign ★ same condition
- LMNA p.Asp185fs 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/lmna-c-1 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown