DSP p.Val2134fs
c.6398dup · rs794728147 · VCV199926
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 | escapes | premature termination codon in the last exon (24 of 24) — the truncated protein is likely expressed. PVS1 input, not an applied code |
| Splicing | ||
| SpliceAI | — | not assessed · substitutions only |
| Constraint at this position | ||
| Conservation | phyloP -7.6 | GERP -3.8 |
Predicted loss-of-function is descriptive, not an applied PVS1 code.
Population frequency
No ancestry breakdown or filtering allele frequency is available for this variant, so BA1/BS1 cannot be assessed from this figure alone.
Variant & gene context
- Gene
- DSP
- Protein
- p.Val2134fs
- Coding
- c.6398dup
- MANE Select
- NM_004415
- dbSNP
- rs794728147
- Type
- Duplication
- Location
- chr6:7583655 (GRCh38)
- Gene constraint
- LOEUF 0.443 · pLI 1.00 · ClinGen HI 3/3 (gnomAD)
- Residue 2134
- a UniProt-annotated variant site (in arvd8; uncertain significance); a UniProt-annotated variant site (in dcwhkta; uncertain significance); a UniProt-annotated variant site (in dcwhk; uncertain significance; abolishes expression in the myocardium); a β-strand; the 'binds to telomeres' region; the 'globular 2' region; the '4.5 x 38 aa tandem repeats (domain a)' 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
arrhythmogenic cardiomyopathy with wooly hair and keratoderma — disease report on Sugi Atlas → Associated genes, phenotypes, clinical trials & treatmentsAlso linked: arrhythmogenic right ventricular dysplasia 8
For Carvajal syndrome (Orphanet):
- Inheritance
- Autosomal dominant, Autosomal recessive
- Onset
- Childhood, Infancy, Neonatal
Similar variants
- DSP p.Arg2151fs Pathogenic/Likely pathogenic ★★ same condition
- DSP p.Arg2156fs Pathogenic/Likely pathogenic ★★ same condition
- DSP p.Asn1865fs Pathogenic ★★ same condition
- DSP p.Asn274fs Pathogenic ★★ same condition
- DSP p.Asp1248fs Pathogenic ★★ same condition
- DSP p.Gln216fs Pathogenic ★★ same condition
- DSP p.Gln2672fs Pathogenic ★★ same condition
- DSP p.Gln873fs 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-val2134fs (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown