EARS2 c.(?_-8
Pathogenic
Single submitter
Classification
Pathogenic
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
Conditions
1
leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type. |
Variant & gene context
- Gene
- EARS2
- Coding
- c.(?_-8
- MANE Select
- NM_001083614
- Type
- Deletion
- Gene constraint
- LOEUF 1.138 · pLI <0.01 · ClinGen HI gene assoc. with recessive phenotype (gnomAD)
- Structure
- AlphaFold pLDDT 89.84
Disease context
leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome — disease report on Sugi Atlas → Associated genes, phenotypes, clinical trials & treatmentsFor Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome (Orphanet):
- Inheritance
- No data available
- Onset
- Infancy, Neonatal
Similar variants
- EARS2 p.Cys140fs Pathogenic/Likely pathogenic ★★ same condition
- EARS2 p.Phe71fs Pathogenic/Likely pathogenic ★★ same condition
- EARS2 p.Gly240fs Likely pathogenic ★ same condition
- EARS2 c.1488+61del Uncertain significance ★ same condition
- EARS2 p.Pro428fs Pathogenic same condition
- EARS2 p.Arg107His Pathogenic/Likely pathogenic ★★ ⚠ same condition
- EARS2 p.Arg108Trp Pathogenic/Likely pathogenic ★★ ⚠ same condition
- EARS2 p.Cys167Tyr 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/ears2-c-minus-8 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown