Is DDO p.Ile61Val (c.181A>G) pathogenic?

DDO p.Ile61Val (c.181A>G) is classified Uncertain significance in DDO (ClinVar, Single submitter, 1 submitter; last evaluated 2025-06-03). Absent from gnomAD v4.1.

How common is DDO p.Ile61Val (c.181A>G) in the general population?

DDO p.Ile61Val (c.181A>G) is absent from gnomAD v4.1 (gnomAD).

DDO p.Ile61Val

c.181A>G · VCV4010055

Uncertain significance Single submitter

Classification

Uncertain significance

ClinVar

Review

Single submitter ★☆☆☆

ClinVar · 1 submitter

gnomAD v4.1

Absent

absent from gnomAD v4.1

Computational evidence

Protein change
Missense predictors do not apply to this variant type; conservation carries the signal.
REVEL	0.036	moderately benign-leaning
Splicing
SpliceAI	—	not assessed · no allele here is in the release
Constraint at this position
Conservation	phyloP -0.49	GERP -2.2
Regional constraint	o/e 1.02	unconstrained · MANE · 21 kb · p 0.67 · regional, not allelic
Overall
CADD	6.921	PHRED · no single calibrated threshold — expert panels disagree

Population frequency

gnomAD v4.1 · exomes + genomes

Absent from gnomAD v4.1. Not observed in any sequenced alleles — a rarity signal (ACMG PM2-supporting), not evidence of pathogenicity on its own.

Variant & gene context

Gene: DDO
Protein: p.Ile61Val
Coding: c.181A>G
MANE Select: NM_001372108
Type: single nucleotide variant
Location: chr6:110408434 (GRCh38)
Gene constraint: LOEUF 1.282 · pLI <0.01 (gnomAD)
Structure: AlphaFold pLDDT 96.36 · 1 PDB
Residue 61: an α-helix

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

Similar variants

DDO p.Gly10Arg Likely benign ★★ same type
DDO c.-11G>A Uncertain significance ★ same type
DDO c.-18T>G Uncertain significance ★ same type
DDO c.-20G>C Uncertain significance ★ same type
DDO c.-36G>C Uncertain significance ★ same type
DDO c.-56G>C Uncertain significance ★ same type
DDO c.-71G>A Uncertain significance ★ same type
DDO p.Ala135Thr 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/ddo-p-ile61val (accessed [today's date]).

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