DSC2 p.Asp347=
c.1041T>C · rs758394251 · VCV798582
Likely benign
Multiple submitters
Classification
Likely benign
ClinVar
Review
Multiple submitters ★★☆☆
ClinVar · 3 submitters
gnomAD v4.1
Not reported
no allele count reported in gnomAD v4.1 (AN 1,613,616)
Conditions
2
cardiomyopathy
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation carries the signal. | ||
| Splicing | ||
| SpliceAI | <0.2 | all four deltas below 0.2 · A>C here scores Δ0.98 · evaluated, not missing |
|---|---|---|
| Constraint at this position | ||
| Conservation | phyloP 0.5 | GERP -3.7, phastCons 0.8 |
| Overall | ||
| CADD | 3.979 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
No allele count reported in gnomAD v4.1 (AN 1,613,616). This is missing data, not an absence: the variant may or may not be present in gnomAD. Rarity (ACMG PM2) and BA1/BS1 cannot be assessed for it.
Variant & gene context
- Gene
- DSC2
- Protein
- p.Asp347=
- Coding
- c.1041T>C
- MANE Select
- NM_024422
- dbSNP
- rs758394251
- Type
- single nucleotide variant
- Location
- chr18:31082962 (GRCh38)
- Gene constraint
- LOEUF 0.743 · pLI <0.01 · ClinGen HI 1/3 (gnomAD)
- Structure
- AlphaFold pLDDT 77.26 · 3 PDB
- Residue 347
- the cadherin 2 domain
Similar variants
- DSC2 p.Asp347Tyr Uncertain significance ★★ ⚠ same residue
- DSC2 p.Asp347Gly Uncertain significance ★ ⚠ same residue
- DSC2 p.Asp347fs Likely pathogenic ★ same residue
- DSC2 c.1664-1G>A Likely pathogenic ★★ same condition
- DSC2 c.354+2T>A Likely pathogenic ★★ same condition
- DSC2 c.355-1G>A Likely pathogenic ★★ same condition
- DSC2 p.Gln554Ter Pathogenic ★★ same condition
- DSC2 p.Gln620Ter 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-asp347 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown