ECHS1 p.Ile66fs
c.198del · VCV3726858
Pathogenic
Single submitter
Classification
Pathogenic
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
Consequence
frameshift
predicted LoF
gnomAD v4.1
Rare
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 2 of 8 |
| Splicing | ||
| SpliceAI | — | not assessed · substitutions only |
| Constraint at this position | ||
| Conservation | phyloP -9.1 | |
Predicted loss-of-function is descriptive, not an applied PVS1 code.
Variant & gene context
- Gene
- ECHS1
- Protein
- p.Ile66fs
- Coding
- c.198del
- MANE Select
- NM_004092
- Type
- Deletion
- Location
- chr10:133370648 (GRCh38)
- Gene constraint
- LOEUF 0.907 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 91.54 · 6 PDB
- Residue 66
- a UniProt-annotated variant site (in echs1d); an α-helix
Similar variants
- ECHS1 p.Ile66Thr Likely pathogenic ★★ ⚠ same residue
- ECHS1 p.Ile66= Likely benign ★ same residue
- ECHS1 c.619+1del Pathogenic ★ same type
- ECHS1 p.Asp121fs Pathogenic ★ same type
- ECHS1 p.Asp202fs Likely pathogenic ★ same type
- ECHS1 p.Lys284fs Uncertain significance ★ same type
- ECHS1 p.Tyr137fs Conflicting classifications of pathogenicity ★ same type
- ECHS1 c.414+7_414+21del Likely benign ★ 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/echs1-p-ile66fs (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown