DSG1 p.Phe747=
c.2241C>T · VCV4938458
Likely benign
Single submitter
Classification
Likely benign
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
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. | ||
| Splicing | ||
| SpliceAI | — | not assessed · no allele here is in the release |
|---|---|---|
| Constraint at this position | ||
| Conservation | phyloP 0.87 | GERP 1.1, phastCons 1 |
| Overall | ||
| CADD | 16.57 | PHRED · no single calibrated threshold — expert panels disagree |
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
- DSG1
- Protein
- p.Phe747=
- Coding
- c.2241C>T
- MANE Select
- NM_001942
- Type
- single nucleotide variant
- Location
- chr18:31354437 (GRCh38)
- Gene constraint
- LOEUF 0.455 · pLI 1.00 (gnomAD)
- Structure
- AlphaFold pLDDT 62.93
- Residue 747
- a UniProt-annotated variant site (in ppks1; uncertain significance; reduces expression of krt10 in keratinocytes); a UniProt-annotated variant site (in ppks1; uncertain significance; reduces protein expression, expression of krt10 and loricrin and increases phosphorylated erk in keratinocytes); a UniProt-annotated variant site (in ppks1; uncertain significance; loss of intact desmosome cell-cell junctions and retracted keratin intermediate filaments at the cell periphery of keratinocytes in the upper spinous and granular layers)
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-phe747 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown