DSP p.Arg1425=
c.4275G>A · rs763489227 · VCV1332651
Likely benign
Single submitter
Classification
Likely benign
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
very rare (popmax 8.47e-05%, nfe)
Conditions
1
cardiomyopathy
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation carries the signal. | ||
| Splicing | ||
| SpliceAI | <0.2 | no splice effect predicted · four deltas, not one · how we know |
|---|---|---|
| Constraint at this position | ||
| Conservation | phyloP 2.6 | GERP -0.26, phastCons 1 |
| Overall | ||
| CADD | 8.217 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
8.47e-05%
European (non-Finnish) · 1/1,179,996 alleles
Overall
6.2e-05%
1/1,613,944 alleles · very rare
exomes 1/1,461,890 · genomes 0/152,054 · joint denominator
Rarity supports pathogenicity (ACMG PM2); frequency above a disease-specific BA1/BS1 threshold argues against it. A variant frequent in one ancestry group can be near-absent in others, so a single global figure can mislead.
Variant & gene context
- Gene
- DSP
- Protein
- p.Arg1425=
- Coding
- c.4275G>A
- MANE Select
- NM_004415
- dbSNP
- rs763489227
- Type
- single nucleotide variant
- Location
- chr6:7580465 (GRCh38)
- Gene constraint
- LOEUF 0.443 · pLI 1.00 · ClinGen HI 3/3 (gnomAD)
- Residue 1425
- 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)
Similar variants
- DSP p.Arg1425Lys Conflicting classifications of pathogenicity ★ same residue
- DSP p.Arg1425Ser Conflicting classifications of pathogenicity ★ same residue
- DSP c.2130+1G>A Pathogenic/Likely pathogenic ★★ same condition
- DSP c.2437-1G>C Likely pathogenic ★★ same condition
- DSP c.273+1G>A Pathogenic/Likely pathogenic ★★ same condition
- DSP c.939+1G>A Pathogenic/Likely pathogenic ★★ same condition
- DSP p.Arg1113Ter Pathogenic/Likely pathogenic ★★ same condition
- DSP p.Arg1267Ter 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-arg1425 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown