DSG1 p.Val83=
c.249T>C · rs2071698508 · VCV1616811
Likely benign
Single submitter
Classification
Likely benign
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
very rare (popmax 8.48e-05%, nfe)
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation carries the signal. | ||
| Splicing | ||
| SpliceAI | — | not assessed · no allele here is in the release |
|---|---|---|
| Constraint at this position | ||
| Conservation | phyloP -0.72 | GERP -3.8, phastCons 0.015 |
| Overall | ||
| CADD | 5.072 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
8.48e-05%
European (non-Finnish) · 1/1,179,600 alleles
Overall
6.2e-05%
1/1,613,512 alleles · very rare
exomes 0/1,461,312 · genomes 1/152,200 · joint denominator
Rarity supports pathogenicity (ACMG PM2); frequency above a disease-specific BA1/BS1 threshold argues against it. A variant frequent in one ancestry group can be near-absent in others, so a single global figure can mislead.
Variant & gene context
- Gene
- DSG1
- Protein
- p.Val83=
- Coding
- c.249T>C
- MANE Select
- NM_001942
- dbSNP
- rs2071698508
- Type
- single nucleotide variant
- Location
- chr18:31328221 (GRCh38)
- Gene constraint
- LOEUF 0.455 · pLI 1.00 (gnomAD)
- Structure
- AlphaFold pLDDT 62.93
- Residue 83
- the 'required for interaction with erbin' region; a UniProt-annotated variant site (in ppks1; uncertain significance; reduces expression of krt10 in keratinocytes); the cadherin 1 domain
Similar variants
- DSG1 p.Arg128Ter Pathogenic ★★ same type
- DSG1 p.Arg144Ter Pathogenic ★★ same type
- DSG1 p.Arg219Ter Pathogenic ★★ same type
- DSG1 p.Arg242Ter Pathogenic ★★ same type
- DSG1 p.Arg26Ter Pathogenic ★★ same type
- DSG1 p.Arg45Ter Pathogenic/Likely pathogenic ★★ same type
- DSG1 p.Arg887Ter Pathogenic/Likely pathogenic ★★ same type
- DSG1 p.Gln81Ter Pathogenic/Likely 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/dsg1-p-val83 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown