Is DSC2 p.Glu795Val (c.2384_2385inv) pathogenic?

DSC2 p.Glu795Val (c.23842385inv) is classified Uncertain significance in DSC2 (ClinVar, Single submitter, 1 submitter; last evaluated 2021-11-04). Associated with arrhythmogenic right ventricular dysplasia 11.

What condition is associated with DSC2 p.Glu795Val (c.2384_2385inv)?

DSC2 p.Glu795Val (c.2384_2385inv) is associated with arrhythmogenic right ventricular dysplasia 11 (ClinVar).

DSC2 p.Glu795Val

Q: How is Inherited isolated arrhythmogenic cardiomyopathy inherited?

Typically Autosomal dominant (Orphanet). A genetic counselor can assess individual risk for a family.

c.2384_2385inv · VCV536271

Uncertain significance Single submitter

Classification

Uncertain significance

ClinVar

Review

Single submitter ★☆☆☆

ClinVar · 1 submitter

gnomAD v4.1

Rare

Conditions

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 -4	GERP -3.6
Regional constraint	o/e 0.98	unconstrained · MANE · 34 kb · p 0.48 · regional, not allelic

Variant & gene context

Gene: DSC2
Protein: p.Glu795Val
Coding: c.2384_2385inv
MANE Select: NM_024422
Type: Inversion
Location: chr18:31069017 (GRCh38)
Gene constraint: LOEUF 0.743 · pLI <0.01 · ClinGen HI 1/3 (gnomAD)
Structure: AlphaFold pLDDT 77.26 · 3 PDB
Residue 795: a UniProt-annotated variant site (in arvd11; likely pathogenic; mislocalization of dsc2 to the cytoplasm within intercalated disks of the heart)

Full DSC2 gene report on Sugi Atlas → Gene function, pathways, protein structure, interactions & more

Disease context

arrhythmogenic right ventricular dysplasia 11 — disease report on Sugi Atlas → Associated genes, phenotypes, clinical trials & treatments

For Inherited isolated arrhythmogenic cardiomyopathy (Orphanet):

Inheritance: Autosomal dominant
Onset: No data available

Similar variants

DSC2 p.Glu795Lys Uncertain significance ★★ ⚠ same residue
DSC2 p.Glu795Asp Uncertain significance ★ ⚠ same residue
DSC3 p.Ala795Pro Uncertain significance ★ ⚠ same residue
DSC3 p.Ala795fs Likely benign ★ 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.Gln158fs Pathogenic/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-glu795val (accessed [today's date]).

Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown