DSC2 p.Ala213Phe
c.637_638delinsTT · VCV4797255
Uncertain significance
Single submitter
Classification
Uncertain significance
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
Conditions
1
arrhythmogenic right ventricular dysplasia 11
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 12 | GERP 1.1, phastCons 1 |
| Regional constraint | o/e 0.98 | unconstrained · MANE · 34 kb · p 0.48 · regional, not allelic |
Variant & gene context
- Gene
- DSC2
- Protein
- p.Ala213Phe
- Coding
- c.637_638delinsTT
- MANE Select
- NM_024422
- Type
- Indel
- Location
- chr18:31087806 (GRCh38)
- Gene constraint
- LOEUF 0.743 · pLI <0.01 · ClinGen HI 1/3 (gnomAD)
- Structure
- AlphaFold pLDDT 77.26 · 3 PDB
- Residue 213
- a β-strand; the cadherin 1 domain
Disease context
arrhythmogenic right ventricular dysplasia 11 — disease report on Sugi Atlas → Associated genes, phenotypes, clinical trials & treatmentsFor Inherited isolated arrhythmogenic cardiomyopathy (Orphanet):
- Inheritance
- Autosomal dominant
- Onset
- No data available
Similar variants
- DSC2 p.Ala213Val Uncertain significance ★★ ⚠ same residue
- DSC2 p.Ala213Thr Uncertain significance ★ ⚠ same residue
- DSC2 p.Ala850fs Uncertain significance ★★ same condition
- DSC2 p.Cys671Ser Uncertain significance ★★ same condition
- DSC2 p.Thr249Asn Uncertain significance ★★ same condition
- DSC2 p.Gln310fs Pathogenic ★ same condition
- DSC2 c.1664-1G>A Likely pathogenic ★★ same condition
- DSC2 c.354+2T>A 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/dsc2-p-ala213phe (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown