DSC2 p.Glu236Ter
c.706G>T · VCV3899575
Likely pathogenic
Single submitter
Classification
Likely pathogenic
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
Consequence
nonsense (stop-gain)
predicted LoF
gnomAD v4.1
Absent
absent from gnomAD v4.1
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation carries the signal. | ||
| Consequence | nonsense (stop-gain) | predicted loss-of-function |
|---|---|---|
| NMD | predicted | premature termination codon in exon 6 of 16 |
| REVEL | 0.025 | moderately benign-leaning |
| Splicing | ||
| SpliceAI | — | not assessed · no allele here is in the release |
| Constraint at this position | ||
| Conservation | phyloP 7.6 | GERP 2, phastCons 1 |
| Overall | ||
| CADD | 37.0 | PHRED · no single calibrated threshold — expert panels disagree |
Predicted loss-of-function is descriptive, not an applied PVS1 code.
Population frequency
gnomAD v4.1 · exomes + genomes
Absent from gnomAD v4.1. Not observed in any sequenced alleles — a rarity signal (ACMG PM2-supporting), not evidence of pathogenicity on its own.
Variant & gene context
- Gene
- DSC2
- Protein
- p.Glu236Ter
- Coding
- c.706G>T
- MANE Select
- NM_024422
- Type
- single nucleotide variant
- Location
- chr18:31087738 (GRCh38)
- Gene constraint
- LOEUF 0.743 · pLI <0.01 · ClinGen HI 1/3 (gnomAD)
- Structure
- AlphaFold pLDDT 77.26 · 3 PDB
- Residue 236
- the cadherin 1 domain
Similar variants
- DSC2 p.Glu236= Likely benign ★★ same residue
- DSC2 p.Glu236Gly Uncertain significance ★ ⚠ same residue
- DSC2 p.Glu236Lys Uncertain significance ★ ⚠ same residue
- DSC2 c.1521-1G>A Likely pathogenic ★★ same type
- DSC2 c.1664-1G>A Likely pathogenic ★★ same type
- DSC2 c.354+2T>A Likely pathogenic ★★ same type
- DSC2 c.355-1G>A Likely pathogenic ★★ same type
- DSC2 p.Gln554Ter Pathogenic ★★ same type
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-glu236ter (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown