IVD p.Pro261fs
c.782del · VCV4717517
Pathogenic/Likely pathogenic
Multiple submitters
Classification
Pathogenic/Likely pathogenic
ClinVar
Review
Multiple submitters ★★☆☆
ClinVar · 2 submitters
Consequence
frameshift
predicted LoF
gnomAD v4.1
Rare
Conditions
1
isovaleric acidemia
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 7 of 12 |
| Splicing | ||
| SpliceAI | — | not assessed · substitutions only |
| Constraint at this position | ||
| Conservation | phyloP -0.92 | GERP -3.2, phastCons 0.006 |
Predicted loss-of-function is descriptive, not an applied PVS1 code.
Variant & gene context
- Gene
- IVD
- Protein
- p.Pro261fs
- Coding
- c.782del
- MANE Select
- NM_002225
- Type
- Deletion
- Location
- chr15:40413084 (GRCh38)
- Gene constraint
- LOEUF 0.776 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 93.25 · 5 PDB
- Residue 261
- a β-strand
Disease context
isovaleric acidemia — disease report on Sugi Atlas → Associated genes, phenotypes, clinical trials & treatmentsFor Isovaleric acidemia (Orphanet):
- Inheritance
- Autosomal recessive
- Onset
- Adolescent, Adult, Childhood, Infancy, Neonatal
- Prevalence
- 1-9 / 100 000 (Europe)
Similar variants
- IVD c.1066del Likely pathogenic ★★ same condition
- IVD c.685_687+15del Likely pathogenic ★★ same condition
- IVD p.Ala128fs Pathogenic/Likely pathogenic ★★ same condition
- IVD p.Arg410fs Pathogenic/Likely pathogenic ★★ same condition
- IVD p.Asp212fs Likely pathogenic ★★ same condition
- IVD p.Cys133fs Pathogenic/Likely pathogenic ★★ same condition
- IVD p.Glu166fs Pathogenic/Likely pathogenic ★★ same condition
- IVD p.Glu310fs 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/ivd-p-pro261fs (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown