JPH2 p.Val692Ile
c.2073_2074inv · VCV1979424
Uncertain significance
Multiple submitters
Classification
Uncertain significance
ClinVar
Review
Multiple submitters ★★☆☆
ClinVar · 4 submitters
gnomAD v4.1
Rare
Conditions
2
cardiomyopathy, dilated, 2E
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation carries the signal. | ||
| Splicing | ||
| SpliceAI | — | not assessed · substitutions only |
|---|---|---|
| Constraint at this position | ||
| Conservation | phyloP 7.5 | GERP 1.5, phastCons 1 |
| Regional constraint | o/e 0.93 | unconstrained · MANE · 72 kb · p 0.022 · regional, not allelic |
Variant & gene context
- Gene
- JPH2
- Protein
- p.Val692Ile
- Coding
- c.2073_2074inv
- MANE Select
- NM_020433
- Type
- Inversion
- Location
- chr20:44114813 (GRCh38)
- Gene constraint
- LOEUF 1.051 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 65.09 · 2 PDB
- Residue 692
- a UniProt-annotated variant site (in cmd2e; uncertain significance)
Disease context
cardiomyopathy, dilated, 2E — disease report on Sugi Atlas → Associated genes, phenotypes, clinical trials & treatmentsAlso linked: hypertrophic cardiomyopathy
For Familial isolated dilated cardiomyopathy (Orphanet):
- Inheritance
- Autosomal dominant, Autosomal recessive, Mitochondrial inheritance
- Onset
- All ages
- Prevalence
- 1-9 / 100 000 (Europe)
Similar variants
- JPH2 p.Thr161Lys Pathogenic/Likely pathogenic ★★ same condition
- JPH2 c.2006_2010+1dup Uncertain significance ★★ same condition
- JPH2 c.*15A>T Uncertain significance ★★ same condition
- JPH2 p.Ala181Thr Uncertain significance ★★ ⚠ same condition
- JPH2 p.Ala194Ser Uncertain significance ★★ ⚠ same condition
- JPH2 p.Ala214Glu Uncertain significance ★★ ⚠ same condition
- JPH2 p.Ala394Thr Uncertain significance ★★ ⚠ same condition
- JPH2 p.Ala401Val Uncertain significance ★★ ⚠ 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/jph2-p-val692ile (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown