Is ADIG c.20C>A pathogenic?

ADIG c.20C>A is classified Uncertain significance in ADIG (ClinVar, Single submitter, 1 submitter; last evaluated 2025-08-02).

ADIG c.20C>A

VCV4244295

Uncertain significance Single submitter

Classification

Uncertain significance

ClinVar

Review

Single submitter ★☆☆☆

ClinVar · 1 submitter

gnomAD v4.1

Rare

Computational evidence

Protein change
Missense predictors do not apply to this variant type.

Variant & gene context

Gene: ADIG
Coding: c.20C>A
MANE Select: NM_001393816 · reported on NM_001018082
Type: single nucleotide variant
Gene constraint: LOEUF 1.845 · pLI <0.01 (gnomAD)
Structure: AlphaFold pLDDT 68.94

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

Similar variants

ADIG p.Arg36His Uncertain significance ★ ⚠ same type
ADIG p.Arg77Lys Uncertain significance ★ ⚠ same type
ADIG p.Leu38Phe Uncertain significance ★ ⚠ same type
ADIG p.Leu39Phe Uncertain significance ★ ⚠ same type
ADIG p.Phe64Val Uncertain significance ★ ⚠ same type
ADIG p.Pro24Ser Uncertain significance ★ ⚠ same type
ADIG p.Pro7Leu Uncertain significance ★ ⚠ same type
ADIG p.Ser49Arg Uncertain significance ★ ⚠ same type

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/adig-c-20c-a (accessed [today's date]).

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