DSP p.Asp230fs
c.687del · VCV4855896
Likely pathogenic
Single submitter
Classification
Likely pathogenic
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
Consequence
frameshift
predicted LoF
gnomAD v4.1
Rare
Conditions
1
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 5 of 24 |
| Splicing | ||
| SpliceAI | — | not assessed · substitutions only |
| Constraint at this position | ||
| Conservation | phyloP 9.7 | GERP 1.2, phastCons 1 |
Predicted loss-of-function is descriptive, not an applied PVS1 code.
Variant & gene context
- Gene
- DSP
- Protein
- p.Asp230fs
- Coding
- c.687del
- MANE Select
- NM_004415
- Type
- Deletion
- Location
- chr6:7562741 (GRCh38)
- Gene constraint
- LOEUF 0.443 · pLI 1.00 · ClinGen HI 3/3 (gnomAD)
- Residue 230
- an α-helix; the 'globular 1' region; the 'interaction with mapre1' region; the 'interaction with jup and pkp2' region; the 'interaction with pkp1' region; a UniProt-annotated variant site (in arvd8; uncertain significance); a UniProt-annotated variant site (in dcwhkta; uncertain significance)
Disease context
DSP-related disorder
Similar variants
- DSP p.Asp1120fs Pathogenic/Likely pathogenic ★★ same condition
- DSP p.Gly1737fs Pathogenic ★★ same condition
- DSP p.Gly2133fs Pathogenic/Likely pathogenic ★★ same condition
- DSP p.Ser1894fs Pathogenic/Likely pathogenic ★★ same condition
- DSP p.Thr2104fs Pathogenic/Likely pathogenic ★★ same condition
- DSP p.Asp230Tyr Uncertain significance ★★ ⚠ same residue
- DSP p.Arg1645fs Likely pathogenic ★ same condition
- DSP p.Cys81_Leu82insTer Likely 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-asp230fs (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown