Is ABCC8 p.Val34= (c.102G>A) pathogenic?

ABCC8 p.Val34= (c.102G>A) is classified Conflicting classifications of pathogenicity in ABCC8 (ClinVar, Conflicting submitters, 6 submitters; last evaluated 2026-02-04). Rare (popmax 0.556%, amr); Associated with Inborn genetic diseases.

What condition is associated with ABCC8 p.Val34= (c.102G>A)?

ABCC8 p.Val34= (c.102G>A) is associated with Inborn genetic diseases, maturity-onset diabetes of the young, transient neonatal diabetes mellitus (ClinVar).

How common is ABCC8 p.Val34= (c.102G>A) in the general population?

ABCC8 p.Val34= (c.102G>A) is rare (popmax 0.556%, amr) (gnomAD).

ABCC8 p.Val34=

c.102G>A · rs189746511 · VCV976552

Conflicting classifications of pathogenicity Conflicting submitters

Classification

Conflicting classifications of pathogenicity

ClinVar

Review

Conflicting submitters ★☆☆☆

ClinVar · 6 submitters

gnomAD v4.1

Rare

rare (popmax 0.556%, amr)

Conditions

Inborn genetic diseases

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 0.8	GERP -4.9, phastCons 1
Overall
CADD	17.89	PHRED · no single calibrated threshold — expert panels disagree

Population frequency

gnomAD v4.1 · exomes + genomes

Grpmax group 0.556% Admixed American · 333/59,936 alleles

Filtering AF 0.506% ClinGen BA1/BS1 input FAF95, joint · FAF99 0.487%

Overall 0.021% 338/1,612,362 alleles · rare exomes 322/1,460,016 · genomes 16/152,346 · joint denominator

Ancestry group	Frequency	1 in
Admixed Americangrpmax	0.556%	180
Remaining individualsnot grpmax-eligible	0.0048%	20,813
European (non-Finnish)	0.00017%	589,703

Rarity supports pathogenicity (ACMG PM2); frequency above a disease-specific BA1/BS1 threshold argues against it. A variant frequent in one ancestry group can be near-absent in others, so a single global figure can mislead.

Variant & gene context

Gene: ABCC8
Protein: p.Val34=
Coding: c.102G>A
MANE Select: NM_000352
dbSNP: rs189746511
Type: single nucleotide variant
Location: chr11:17476675 (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 34: an α-helix

Full ABCC8 gene report on Sugi Atlas → Gene function, pathways, protein structure, interactions & more

Disease context

Inborn genetic diseases — disease report on Sugi Atlas → Associated genes, phenotypes, clinical trials & treatments

Also linked: maturity-onset diabetes of the young transient neonatal diabetes mellitus

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.Arg1250Ter 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

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-val34 (accessed [today's date]).

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