Is EDEM3 p.Arg283fs (c.848del) pathogenic?

EDEM3 p.Arg283fs (c.848del) is classified Pathogenic in EDEM3 (ClinVar, Single submitter, 1 submitter). Associated with congenital disorder of glycosylation, type 2v.

What condition is associated with EDEM3 p.Arg283fs (c.848del)?

EDEM3 p.Arg283fs (c.848del) is associated with congenital disorder of glycosylation, type 2v (ClinVar).

How is EDEM3-CDG inherited?

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

EDEM3 p.Arg283fs

c.848del · VCV3382610

Pathogenic Single submitter

Classification

Pathogenic

ClinVar

Review

Single submitter ★☆☆☆

ClinVar · 1 submitter

Consequence

frameshift

predicted LoF

gnomAD v4.1

Rare

Conditions

congenital disorder of glycosylation, type 2v

Computational evidence

Protein change
Missense predictors do not apply to this variant type; conservation carries the signal.
Consequence	frameshift	predicted loss-of-function
NMD	predicted	premature termination codon in exon 8 of 20
Splicing
SpliceAI	—	not assessed · substitutions only
Constraint at this position
Conservation	phyloP -0.43	GERP -3.4, phastCons 0.077

Predicted loss-of-function is descriptive, not an applied PVS1 code.

Variant & gene context

Gene: EDEM3
Protein: p.Arg283fs
Coding: c.848del
MANE Select: NM_025191
Type: Deletion
Location: chr1:184723756 (GRCh38)
Gene constraint: LOEUF 0.671 · pLI <0.01 (gnomAD)
Structure: AlphaFold pLDDT 78.50

Full EDEM3 gene report on Sugi Atlas → Gene function, pathways, protein structure, interactions & more

Disease context

congenital disorder of glycosylation, type 2v — disease report on Sugi Atlas → Associated genes, phenotypes, clinical trials & treatments

For EDEM3-CDG (Orphanet):

Inheritance: Autosomal recessive

Similar variants

EDEM3 p.Asp364fs Likely pathogenic ★ same condition
EDEM3 p.Pro667fs Pathogenic ★ same condition
EDEM3 p.Arg457fs Pathogenic same condition
EDEM3 p.Ile620fs Pathogenic same condition
EDEM3 p.Asp554Val Uncertain significance ★★ ⚠ same condition
EDEM3 p.Arg265Ter Likely pathogenic ★ same condition
EDEM3 c.1692-28A>T Uncertain significance ★ same condition
EDEM3 c.306-3T>A 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/edem3-p-arg283fs (accessed [today's date]).

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