Is EEF2 p.Gln670fs (c.2008dup) pathogenic?

EEF2 p.Gln670fs (c.2008dup) is classified Likely pathogenic in EEF2 (ClinVar, Single submitter, 1 submitter; last evaluated 2023-10-27). Associated with EEF2-related neurodevelopmental disorder with multiple anomalies.

What condition is associated with EEF2 p.Gln670fs (c.2008dup)?

EEF2 p.Gln670fs (c.2008dup) is associated with EEF2-related neurodevelopmental disorder with multiple anomalies (ClinVar).

EEF2 p.Gln670fs

c.2008dup · VCV3775634

Likely pathogenic Single submitter

Classification

Likely pathogenic

ClinVar

Review

Single submitter ★☆☆☆

ClinVar · 1 submitter

Consequence

frameshift

predicted LoF

gnomAD v4.1

Rare

Conditions

EEF2-related neurodevelopmental disorder with multiple anomalies

Computational evidence

Protein change
Missense predictors do not apply to this variant type; conservation carries the signal.
Consequence	frameshift	predicted loss-of-function in a LoF-intolerant gene
NMD	predicted	premature termination codon in exon 12 of 15
Splicing
SpliceAI	—	not assessed · substitutions only
Constraint at this position
Conservation	phyloP 7.8	GERP 2.2, phastCons 1

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

Variant & gene context

Gene: EEF2
Protein: p.Gln670fs
Coding: c.2008dup
MANE Select: NM_001961
Type: Duplication
Location: chr19:3977877 (GRCh38)
Gene constraint: LOEUF 0.39 · pLI 1.00 (gnomAD)
Structure: AlphaFold pLDDT 89.97 · 26 PDB

Full EEF2 gene report on Sugi Atlas → Gene function, pathways, protein structure, interactions & more

Disease context

EEF2-related neurodevelopmental disorder with multiple anomalies

Similar variants

EEF2 p.Gln670= Uncertain significance ★ same residue
EEF2 p.Gln670Glu Uncertain significance ★ ⚠ same residue
EEF2 p.Glu563Asp Uncertain significance ★ ⚠ same condition
EEF2 p.Glu742Ter Uncertain significance ★ same condition
EEF2 p.Gly347Arg Uncertain significance ★ ⚠ same condition
EEF2 p.Arg601Trp Uncertain significance ⚠ same condition
EEF2 p.Thr657= Likely benign same condition
EEF2 c.1012-2dup 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/eef2-p-gln670fs (accessed [today's date]).

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