ABCC8 c.(?_1818
Pathogenic
No assertion criteria
Classification
Pathogenic
ClinVar
Review
No assertion criteria ☆☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
Conditions
1
hyperinsulinemic hypoglycemia, familial, 1
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type. |
Variant & gene context
- Gene
- ABCC8
- Coding
- c.(?_1818
- MANE Select
- NM_000352
- Type
- Deletion
- Gene constraint
- LOEUF 0.829 · pLI <0.01 · ClinGen HI gene assoc. with recessive phenotype (gnomAD)
- Structure
- AlphaFold pLDDT 82.56 · 8 PDB
Similar variants
- ABCC8 p.Ala269fs Pathogenic/Likely pathogenic ★★ same condition
- ABCC8 p.Gln632fs Pathogenic ★★ same condition
- ABCC8 p.His627fs Pathogenic ★★ same condition
- ABCC8 p.Ile450fs Pathogenic ★★ same condition
- ABCC8 p.Ile550fs Pathogenic/Likely pathogenic ★★ same condition
- ABCC8 p.Leu1170fs Pathogenic/Likely pathogenic ★★ same condition
- ABCC8 p.Leu178_Tyr179insTer Pathogenic/Likely pathogenic ★★ same condition
- ABCC8 p.Phe1387del 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/abcc8-c-1818 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown