DSC2 p.Ser504del
c.1506_1508del · VCV4756314
Uncertain significance
Single submitter
Classification
Uncertain significance
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
Conditions
1
cardiomyopathy
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 4.4 | GERP 1.2, phastCons 1 |
Variant & gene context
- Gene
- DSC2
- Protein
- p.Ser504del
- Coding
- c.1506_1508del
- MANE Select
- NM_024422
- Type
- Deletion
- Location
- chr18:31080108 (GRCh38)
- Gene constraint
- LOEUF 0.743 · pLI <0.01 · ClinGen HI 1/3 (gnomAD)
- Structure
- AlphaFold pLDDT 77.26 · 3 PDB
- Residue 504
- the cadherin 4 domain
Similar variants
- DSC2 p.Ser504Gly Conflicting classifications of pathogenicity ★ ⚠ same residue
- DSC2 p.Gln320fs Uncertain significance ★★ same condition
- DSC2 p.Gly193_Ser208del Uncertain significance ★★ same condition
- DSC2 c.70-11del Benign/Likely benign ★★ same condition
- DSC2 c.2125+1del Conflicting classifications of pathogenicity ★ same condition
- DSC2 p.Ala31_Cys32insTer Conflicting classifications of pathogenicity ★ same condition
- DSC2 p.Ala718fs Conflicting classifications of pathogenicity ★ same condition
- DSC2 p.Ala800fs Conflicting classifications of pathogenicity ★ 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-ser504del (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown