DSP p.Asp1120fs
c.3360_3372del · VCV4793537
Pathogenic/Likely pathogenic
Multiple submitters
Classification
Pathogenic/Likely pathogenic
ClinVar
Review
Multiple submitters ★★☆☆
ClinVar · 2 submitters
Consequence
frameshift
predicted LoF
gnomAD v4.1
Rare
Conditions
3
DSP-related disorder
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation carries the signal. | ||
| Consequence | frameshift | predicted loss-of-function in a haploinsufficient gene (ClinGen) |
|---|---|---|
| NMD | predicted | premature termination codon in exon 23 of 24 |
| Splicing | ||
| SpliceAI | — | not assessed · substitutions only |
| Constraint at this position | ||
| Conservation | phyloP -6.8 | GERP -2.7 |
Predicted loss-of-function is descriptive, not an applied PVS1 code.
Variant & gene context
- Gene
- DSP
- Protein
- p.Asp1120fs
- Coding
- c.3360_3372del
- MANE Select
- NM_004415
- Type
- Deletion
- Location
- chr6:7579545 (GRCh38)
- Gene constraint
- LOEUF 0.443 · pLI 1.00 · ClinGen HI 3/3 (gnomAD)
- Residue 1120
- a UniProt-annotated variant site (in arvd8; uncertain significance); a UniProt-annotated variant site (in dcwhkta; uncertain significance); the 'central fibrous rod domain' region; the 'binds to telomeres' region; a UniProt-annotated variant site (in arvd8; likely pathogenic; results in an unstable protein that forms perinuclear aggregates); a UniProt-annotated variant site (in arvd8 and dcwhkta; uncertain significance); a UniProt-annotated variant site (in arvd8)
Disease context
DSP-related disorder
Also linked: arrhythmogenic cardiomyopathy with wooly hair and keratodermaarrhythmogenic right ventricular dysplasia 8
Similar variants
- DSP c.2131-3_2131del Likely pathogenic ★★ same condition
- DSP p.Ala2092fs Pathogenic/Likely pathogenic ★★ same condition
- DSP p.Arg1113fs Pathogenic ★★ same condition
- DSP p.Arg1173fs Pathogenic ★★ same condition
- DSP p.Arg1506fs Pathogenic/Likely pathogenic ★★ same condition
- DSP p.Asn1346fs Pathogenic/Likely pathogenic ★★ same condition
- DSP p.Asn257fs Pathogenic ★★ same condition
- DSP p.Asp2157fs Pathogenic ★★ 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/dsp-p-asp1120fs (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown