DSP p.Lys1054fs
c.3160_3169del · rs397516932 · VCV44892
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 0.066 | GERP -0.92, phastCons 0.91 |
Predicted loss-of-function is descriptive, not an applied PVS1 code.
Population frequency
No gnomAD frequency available for this variant. This is missing data, not an absence: the variant may or may not be present in gnomAD. Rarity (ACMG PM2) and BA1/BS1 cannot be assessed for it.
Variant & gene context
- Gene
- DSP
- Protein
- p.Lys1054fs
- Coding
- c.3160_3169del
- MANE Select
- NM_004415
- dbSNP
- rs397516932
- Type
- Deletion
- Location
- chr6:7579347 (GRCh38)
- Gene constraint
- LOEUF 0.443 · pLI 1.00 · ClinGen HI 3/3 (gnomAD)
- Residue 1054
- a UniProt-annotated variant site (in arvd8; uncertain significance); a UniProt-annotated variant site (in dcwhkta; uncertain significance); the 'globular 1' 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 8arrhythmogenic right ventricular cardiomyopathy
For Carvajal syndrome (Orphanet):
- Inheritance
- Autosomal dominant, Autosomal recessive
- Onset
- Childhood, Infancy, Neonatal
Similar variants
- DSP p.Lys1054del Uncertain significance ★★ same residue
- DSP p.Lys1054= Benign/Likely benign ★★ same residue
- DSP p.Lys1054Asn Uncertain significance ★ same residue
- 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
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-lys1054fs (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown