Is DSC2 p.Val49del (c.143TTG[1]) pathogenic?

DSC2 p.Val49del (c.143TTG[1]) is classified Uncertain significance in DSC2 (ClinVar, Single submitter, 1 submitter; last evaluated 2023-06-26). No gnomAD frequency available for this variant; Associated with familial isolated arrhythmogenic right ventricular dysplasia.

What condition is associated with DSC2 p.Val49del (c.143TTG[1])?

DSC2 p.Val49del (c.143TTG[1]) is associated with familial isolated arrhythmogenic right ventricular dysplasia (ClinVar).

How common is DSC2 p.Val49del (c.143TTG[1]) in the general population?

DSC2 p.Val49del (c.143TTG[1]) is no gnomAD frequency available for this variant (gnomAD).

DSC2 p.Val49del

Q: How is Inherited isolated arrhythmogenic cardiomyopathy inherited?

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

c.143TTG[1] · rs2510957167 · VCV3072020

Uncertain significance Single submitter

Classification

Uncertain significance

ClinVar

Review

Single submitter ★☆☆☆

ClinVar · 1 submitter

gnomAD v4.1

Not reported

no gnomAD frequency available for this variant

Conditions

familial isolated arrhythmogenic right ventricular dysplasia

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 7.6	GERP 2, phastCons 1

Population frequency

dbSNP / gnomAD

No gnomAD frequency available for this variant. 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.Val49del
Coding: c.143TTG[1]
MANE Select: NM_024422
dbSNP: rs2510957167
Type: Microsatellite
Location: chr18:31093565 (GRCh38)
Gene constraint: LOEUF 0.743 · pLI <0.01 · ClinGen HI 1/3 (gnomAD)
Structure: AlphaFold pLDDT 77.26 · 3 PDB

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

Disease context

familial isolated arrhythmogenic right ventricular dysplasia — 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.Val49Ala Uncertain significance ★★ ⚠ same residue
DSC2 p.Gly790del Benign/Likely benign ★★ same condition
DSC2 p.Cys197fs Uncertain significance ★ same condition
DSC2 p.Leu668fs Uncertain significance ★ same condition
DSC2 p.Val49Phe Uncertain significance ★ ⚠ same residue
DSC2 c.1077+2T>G Uncertain significance ★★ same condition
DSC2 c.1520+6T>C Uncertain significance ★★ same condition
DSC2 c.942+3A>G 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/dsc2-p-val49del (accessed [today's date]).

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