ECHS1 p.Arg181fs
c.533_536dup · VCV3616765
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 5 of 8 |
| Splicing | ||
| SpliceAI | — | not assessed · substitutions only |
| Constraint at this position | ||
| Conservation | phyloP 0.35 | phastCons 0.98 |
Predicted loss-of-function is descriptive, not an applied PVS1 code.
Variant & gene context
- Gene
- ECHS1
- Protein
- p.Arg181fs
- Coding
- c.533_536dup
- MANE Select
- NM_004092
- Type
- Duplication
- Location
- chr10:133366971 (GRCh38)
- Gene constraint
- LOEUF 0.907 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 91.54 · 6 PDB
- Residue 181
- an α-helix
Similar variants
- ECHS1 p.Arg181Cys Conflicting classifications of pathogenicity ★ same residue
- ECHS1 p.Arg181His Uncertain significance ★ ⚠ same residue
- ECHS1 p.Arg181Leu Uncertain significance ★ ⚠ same residue
- ECHS1 p.Thr124fs Pathogenic ★★ same type
- ECHS1 p.Ala247fs Likely pathogenic ★ same type
- ECHS1 p.Ala2fs Likely pathogenic ★ same type
- ECHS1 p.Arg41fs Pathogenic ★ same type
- ECHS1 p.Asn286fs Pathogenic ★ 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-arg181fs (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown