Is EEF1A2 p.Ser175Lys (c.524_525delinsAG) pathogenic?

EEF1A2 p.Ser175Lys (c.524525delinsAG) is classified Uncertain significance in EEF1A2 (ClinVar, Single submitter, 1 submitter; last evaluated 2022-06-18). Absent from gnomAD; Associated with developmental and epileptic encephalopathy, 33.

What condition is associated with EEF1A2 p.Ser175Lys (c.524_525delinsAG)?

EEF1A2 p.Ser175Lys (c.524_525delinsAG) is associated with developmental and epileptic encephalopathy, 33 (ClinVar).

How common is EEF1A2 p.Ser175Lys (c.524_525delinsAG) in the general population?

EEF1A2 p.Ser175Lys (c.524_525delinsAG) is absent from gnomAD (gnomAD).

EEF1A2 p.Ser175Lys

Q: How is Non-specific early-onset epileptic encephalopathy inherited?

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

c.524_525delinsAG · rs2516783126 · VCV2001892

Uncertain significance Single submitter

Classification

Uncertain significance

ClinVar

Review

Single submitter ★☆☆☆

ClinVar · 1 submitter

gnomAD v4.1

Not reported

no gnomAD frequency available for this variant

Conditions

developmental and epileptic encephalopathy, 33

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 5.2	GERP 1.9, phastCons 1
Regional constraint	o/e 0.46	unconstrained · MANE · 1,861 bp · p 1.2e-12 · regional, not allelic

Population frequency

dbSNP / gnomAD

No gnomAD frequency available for this variant. This is missing data, not an absence: the variant may or may not be present in gnomAD. Rarity (ACMG PM2) and BA1/BS1 cannot be assessed for it.

Variant & gene context

Gene: EEF1A2
Protein: p.Ser175Lys
Coding: c.524_525delinsAG
MANE Select: NM_001958
dbSNP: rs2516783126
Type: Indel
Location: chr20:63494901 (GRCh38)
Gene constraint: LOEUF 0.314 · pLI 1.00 · ClinGen HI 0/3 (gnomAD)
Structure: AlphaFold pLDDT 88.70 · 2 PDB
Residue 175: the tr-type g domain; an α-helix

Full EEF1A2 gene report on Sugi Atlas → Gene function, pathways, protein structure, interactions & more

Disease context

developmental and epileptic encephalopathy, 33 — disease report on Sugi Atlas → Associated genes, phenotypes, clinical trials & treatments

For Non-specific early-onset epileptic encephalopathy (Orphanet):

Inheritance: Autosomal dominant, Autosomal recessive, Not applicable
Onset: Infancy, Neonatal

Similar variants

EEF1A2 p.Ser175= Likely benign ★★ same residue
EEF1A2 p.Asp17Gly Likely pathogenic ★ same condition
EEF1A2 p.Ala161Thr Uncertain significance ★ same condition
EEF1A2 p.Arg423Gln Uncertain significance ★ same condition
EEF1A2 c.1029+11_1029+12delinsAT Likely benign ★ same condition
EEF1A2 p.Ser175Asn Likely benign ★ ⚠ same residue
EEF1A2 p.Arg266Trp Pathogenic/Likely pathogenic ★★ same condition
EEF1A2 p.Arg423Cys Pathogenic/Likely pathogenic ★★ 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/eef1a2-p-ser175lys (accessed [today's date]).

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