DSP p.Cys57Ter
c.171T>A · rs1758487010 · VCV915713
Likely pathogenic
Single submitter
Classification
Likely pathogenic
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
Consequence
nonsense (stop-gain)
predicted LoF
gnomAD v4.1
Absent
absent from gnomAD v4.1
Conditions
1
cardiomyopathy
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation carries the signal. | ||
| Consequence | nonsense (stop-gain) | predicted loss-of-function in a haploinsufficient gene (ClinGen) |
|---|---|---|
| NMD | predicted | premature termination codon in exon 2 of 24 |
| Splicing | ||
| SpliceAI | — | not assessed · no allele here is in the release |
| Constraint at this position | ||
| Conservation | phyloP 0.16 | GERP -0.003, phastCons 0.99 |
| Overall | ||
| CADD | 35.0 | PHRED · no single calibrated threshold — expert panels disagree |
Predicted loss-of-function is descriptive, not an applied PVS1 code.
Population frequency
gnomAD v4.1 · exomes + genomes
Absent from gnomAD v4.1. Not observed in any sequenced alleles — a rarity signal (ACMG PM2-supporting), not evidence of pathogenicity on its own.
Variant & gene context
- Gene
- DSP
- Protein
- p.Cys57Ter
- Coding
- c.171T>A
- MANE Select
- NM_004415
- dbSNP
- rs1758487010
- Type
- single nucleotide variant
- Location
- chr6:7555718 (GRCh38)
- Gene constraint
- LOEUF 0.443 · pLI 1.00 · ClinGen HI 3/3 (gnomAD)
- Residue 57
- the 'globular 1' region; the 'interaction with mapre1' region; the 'interaction with jup and pkp2' region
Similar variants
- DSP p.Cys57= Likely benign ★ 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
- DSP p.Arg1269Ter 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-cys57ter (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown