ELANE p.Val197fs
c.588_589insTTTTT · VCV3346756
Likely pathogenic
No assertion criteria
Classification
Likely pathogenic
ClinVar
Review
No assertion criteria ☆☆☆☆
ClinVar · 1 submitter
Consequence
frameshift
predicted LoF
gnomAD v4.1
Rare
Conditions
1
ELANE-related disorder
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation carries the signal. | ||
| Consequence | frameshift | predicted loss-of-function |
|---|---|---|
| NMD | escapes | premature termination codon within the last 50 nt of the penultimate exon (4 of 5, 9 nt from its 3' end) — the truncated protein is likely expressed. PVS1 input, not an applied code |
| Splicing | ||
| SpliceAI | — | not assessed · substitutions only |
| Constraint at this position | ||
| Conservation | phyloP 0.22 | GERP -1.5, phastCons 0.97 |
Predicted loss-of-function is descriptive, not an applied PVS1 code.
Variant & gene context
- Gene
- ELANE
- Protein
- p.Val197fs
- Coding
- c.588_589insTTTTT
- MANE Select
- NM_001972
- Type
- Insertion
- Location
- chr19:855785 (GRCh38)
- Gene constraint
- LOEUF 1.245 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 88.42 · 38 PDB
- Residue 197
- the peptidase s1 domain; a UniProt-annotated variant site (in scn1 and ch)
Disease context
ELANE-related disorder
Similar variants
- ELANE p.Val197Ala Uncertain significance ★ ⚠ same residue
- ELANE p.Val197Ile Conflicting classifications of pathogenicity ★ ⚠ same residue
- ELANE c.597+1G>T Pathogenic ★★ same condition
- ELANE p.Ala61Val Pathogenic/Likely pathogenic ★★ same condition
- ELANE p.Arg103Leu Likely pathogenic ★★ same condition
- ELANE p.Arg220Gln Pathogenic/Likely pathogenic ★★ ⚠ same condition
- ELANE p.Gly214Arg Pathogenic ★★ same condition
- ELANE p.Leu84Pro 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/elane-p-val197fs (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown