DSP p.His618fs
c.1802_1851dup · VCV3767929
Likely pathogenic
Single submitter
Classification
Likely pathogenic
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
Consequence
frameshift
predicted LoF
gnomAD v4.1
Rare
Conditions
1
Cardiovascular phenotype
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 14 of 24 |
| Splicing | ||
| SpliceAI | — | not assessed · substitutions only |
| Constraint at this position | ||
| Conservation | phyloP -4.3 | GERP -3.7 |
Predicted loss-of-function is descriptive, not an applied PVS1 code.
Variant & gene context
- Gene
- DSP
- Protein
- p.His618fs
- Coding
- c.1802_1851dup
- MANE Select
- NM_004415
- Type
- Duplication
- Location
- chr6:7571481 (GRCh38)
- Gene constraint
- LOEUF 0.443 · pLI 1.00 · ClinGen HI 3/3 (gnomAD)
- Residue 618
- a UniProt-annotated variant site (in dcwhkta; leads to a significant reduction in gja1 localization to the plasma membrane); an α-helix; the 'globular 1' region; the 'interaction with mapre1' region; a UniProt-annotated variant site (in arvd8; uncertain significance); a UniProt-annotated variant site (in dcwhkta; uncertain significance); 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.His618Tyr Uncertain significance ★★ ⚠ same residue
- DSP p.Asn1234fs Pathogenic ★★ same condition
- DSP p.Gln1467fs Pathogenic/Likely pathogenic ★★ same condition
- DSP p.Gln216fs Pathogenic ★★ same condition
- DSP p.Gln873fs Pathogenic ★★ same condition
- DSP p.Gln994fs Pathogenic/Likely pathogenic ★★ same condition
- DSP p.Glu1159fs Pathogenic ★★ same condition
- DSP p.Glu310fs 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-his618fs (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown