DSC2 p.Thr168fs
c.501_502dup · rs2144839173 · VCV1693187
Pathogenic
Single submitter
Classification
Pathogenic
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
Consequence
frameshift
predicted LoF
gnomAD v4.1
Rare
ultra-rare (gnomAD MAF 7.136e-07)
Conditions
1
arrhythmogenic right ventricular cardiomyopathy
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation carries the signal. | ||
| Consequence | frameshift | predicted loss-of-function |
|---|---|---|
| NMD | predicted | premature termination codon in exon 5 of 16 |
| Splicing | ||
| SpliceAI | — | not assessed · substitutions only |
| Constraint at this position | ||
| Conservation | phyloP 9.9 | GERP 2, phastCons 1 |
Predicted loss-of-function is descriptive, not an applied PVS1 code.
Population frequency
dbSNP / gnomAD
Global frequency
7.14e-05%
via dbSNP · ultra-rare
No ancestry breakdown or filtering allele frequency is available for this variant, so BA1/BS1 cannot be assessed from this figure alone.
Variant & gene context
- Gene
- DSC2
- Protein
- p.Thr168fs
- Coding
- c.501_502dup
- MANE Select
- NM_024422
- dbSNP
- rs2144839173
- Type
- Microsatellite
- Location
- chr18:31089566 (GRCh38)
- Gene constraint
- LOEUF 0.743 · pLI <0.01 · ClinGen HI 1/3 (gnomAD)
- Structure
- AlphaFold pLDDT 77.26 · 3 PDB
- Residue 168
- the cadherin 1 domain
Similar variants
- DSC2 p.Thr168Ser Uncertain significance ★ ⚠ same residue
- DSC2 p.Ser740Ter Likely pathogenic ★★ same condition
- DSC2 p.Tyr221Ter Pathogenic/Likely pathogenic ★★ same condition
- DSC2 c.1077+2T>G Uncertain significance ★★ same condition
- DSC2 c.2251-3C>T Uncertain significance ★★ same condition
- DSC2 p.Arg357Cys Uncertain significance ★★ ⚠ same condition
- DSC2 p.Asn573Asp Uncertain significance ★★ ⚠ same condition
- DSC2 p.Asp238Gly 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-thr168fs (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown