IVD p.Arg28=
c.84G>C · rs2542619848 · VCV2109969
Likely benign
Single submitter
Classification
Likely benign
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Absent
absent from gnomAD v4.1
Conditions
1
isovaleric acidemia
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation carries the signal. | ||
| Splicing | ||
| SpliceAI | — | not assessed · no allele here is in the release |
|---|---|---|
| Constraint at this position | ||
| Conservation | phyloP 0.91 | GERP -4.5, phastCons 0.62 |
| Overall | ||
| CADD | 6.813 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Absent from gnomAD v4.1. Not observed in any sequenced alleles — a rarity signal (ACMG PM2-supporting), not evidence of pathogenicity on its own.
Variant & gene context
- Gene
- IVD
- Protein
- p.Arg28=
- Coding
- c.84G>C
- MANE Select
- NM_002225
- dbSNP
- rs2542619848
- Type
- single nucleotide variant
- Location
- chr15:40405911 (GRCh38)
- Gene constraint
- LOEUF 0.776 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 93.25 · 5 PDB
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.144+1G>A Likely pathogenic ★★ same condition
- IVD c.144+1G>C Pathogenic ★★ same condition
- IVD c.286+2T>C Pathogenic/Likely pathogenic ★★ same condition
- IVD c.286+5G>T Likely pathogenic ★★ same condition
- IVD c.287-1G>A Pathogenic/Likely pathogenic ★★ same condition
- IVD c.287-2A>G Pathogenic/Likely pathogenic ★★ same condition
- IVD c.456+2T>C Pathogenic ★★ same condition
- IVD c.457-2A>G 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-arg28 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown