Is DDOST p.Glu286del (c.851AGG[2]) pathogenic?

DDOST p.Glu286del (c.851AGG[2]) is classified Uncertain significance in DDOST (ClinVar, Single submitter, 1 submitter; last evaluated 2024-02-24). Very rare (popmax 0.00223%, eas); Associated with DDOST-congenital disorder of glycosylation.

What condition is associated with DDOST p.Glu286del (c.851AGG[2])?

DDOST p.Glu286del (c.851AGG[2]) is associated with DDOST-congenital disorder of glycosylation (ClinVar).

How common is DDOST p.Glu286del (c.851AGG[2]) in the general population?

DDOST p.Glu286del (c.851AGG[2]) is very rare (popmax 0.00223%, eas) (gnomAD).

How is DDOST-CDG inherited?

Typically Autosomal recessive (Orphanet). A genetic counselor can assess individual risk for a family.

DDOST p.Glu286del

c.851AGG[2] · rs1557571295 · VCV1413206

Uncertain significance Single submitter

Classification

Uncertain significance

ClinVar

Review

Single submitter ★☆☆☆

ClinVar · 1 submitter

gnomAD v4.1

Rare

very rare (popmax 0.00223%, eas)

Conditions

DDOST-congenital disorder of glycosylation

Computational evidence

Protein change
Missense predictors do not apply to this variant type; conservation carries the signal.
Splicing
SpliceAI	—	not assessed · substitutions only
Constraint at this position
Conservation	phyloP 7.6	GERP 2.2, phastCons 1

Population frequency

gnomAD v4.1 · exomes + genomes

Grpmax group 0.00223% East Asian · 1/44,886 alleles

Overall 6.84e-05% 1/1,461,704 alleles · very rare

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: DDOST
Protein: p.Glu286del
Coding: c.851AGG[2]
MANE Select: NM_005216
dbSNP: rs1557571295
Type: Microsatellite
Location: chr1:20653710 (GRCh38)
Gene constraint: LOEUF 0.747 · pLI <0.01 · ClinGen HI gene assoc. with recessive phenotype (gnomAD)
Structure: AlphaFold pLDDT 89.27 · 6 PDB

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

Disease context

DDOST-congenital disorder of glycosylation — disease report on Sugi Atlas → Associated genes, phenotypes, clinical trials & treatments

For DDOST-CDG (Orphanet):

Inheritance: Autosomal recessive
Onset: Infancy, Neonatal

Similar variants

DDOST p.Lys354del Uncertain significance ★ same condition
DDOST p.Phe252del Uncertain significance ★ same condition
DDOST p.Phe429del Uncertain significance ★ same condition
DDOST c.1171-7_1171-5del Likely benign ★ same condition
DDOST p.Gln215His Pathogenic/Likely pathogenic ★★ ⚠ same condition
DDOST c.-18T>G Uncertain significance ★★ ⚠ same condition
DDOST p.Ala11Val Uncertain significance ★★ ⚠ same condition
DDOST p.Ala219Val Uncertain significance ★★ ⚠ 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/ddost-p-glu286del (accessed [today's date]).

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