ABCC8 p.Leu182=
c.546G>A · rs1591896019 · VCV766359
Conflicting classifications of pathogenicity
Conflicting submitters
Classification
Conflicting classifications of pathogenicity
ClinVar
Review
Conflicting submitters ★☆☆☆
ClinVar · 2 submitters
gnomAD v4.1
Not reported
no allele count reported in gnomAD v4.1 (AN 1,605,924)
Conditions
2
transient neonatal diabetes mellitus
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation carries the signal. | ||
| Splicing | ||
| SpliceAI | — | not assessed · no allele here is in the release |
|---|---|---|
| Constraint at this position | ||
| Conservation | phyloP 0.078 | GERP -2, phastCons 0.85 |
| Overall | ||
| CADD | 9.176 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
No allele count reported in gnomAD v4.1 (AN 1,605,924). 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
- ABCC8
- Protein
- p.Leu182=
- Coding
- c.546G>A
- MANE Select
- NM_000352
- dbSNP
- rs1591896019
- Type
- single nucleotide variant
- Location
- chr11:17463471 (GRCh38)
- Gene constraint
- LOEUF 0.829 · pLI <0.01 · ClinGen HI gene assoc. with recessive phenotype (gnomAD)
- Structure
- AlphaFold pLDDT 82.56 · 8 PDB
- Residue 182
- an α-helix
Similar variants
- ABCC8 c.2116+2T>C Pathogenic/Likely pathogenic ★★ same condition
- ABCC8 c.3868-1G>A Pathogenic/Likely pathogenic ★★ same condition
- ABCC8 c.3989-9G>A Pathogenic ★★ same condition
- ABCC8 c.4308-2A>G Pathogenic/Likely pathogenic ★★ same condition
- ABCC8 p.Arg1379His Pathogenic/Likely pathogenic ★★ same condition
- ABCC8 p.Arg1538Gln Pathogenic/Likely pathogenic ★★ same condition
- ABCC8 p.Gly228Asp Pathogenic/Likely pathogenic ★★ same condition
- ABCC8 p.Gly716Ser 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/abcc8-p-leu182 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown