THAP1 p.Cys67fs
c.199dup · VCV4293393
Likely pathogenic
Single submitter
Classification
Likely pathogenic
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
Consequence
frameshift
predicted LoF
gnomAD v4.1
Rare
Conditions
1
torsion dystonia 6
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 LoF-intolerant gene |
|---|---|---|
| NMD | predicted | premature termination codon in exon 2 of 3 |
| Splicing | ||
| SpliceAI | — | not assessed · substitutions only |
| Constraint at this position | ||
| Conservation | phyloP 7.6 | GERP 2.3, phastCons 1 |
Predicted loss-of-function is descriptive, not an applied PVS1 code.
Variant & gene context
- Gene
- THAP1
- Protein
- p.Cys67fs
- Coding
- c.199dup
- MANE Select
- NM_018105
- Type
- Duplication
- Location
- chr8:42839253 (GRCh38)
- Gene constraint
- LOEUF 0.571 · pLI 0.90 (gnomAD)
- Structure
- AlphaFold pLDDT 71.61 · 3 PDB
- Residue 67
- a β-strand
Disease context
torsion dystonia 6 — disease report on Sugi Atlas → Associated genes, phenotypes, clinical trials & treatmentsFor Primary dystonia, DYT6 type (Orphanet):
- Inheritance
- Autosomal dominant
- Onset
- Adolescent, Adult, Childhood
- Prevalence
- <1 / 1 000 000 (Worldwide)
Similar variants
- THAP1 p.Pro103fs Pathogenic ★ same condition
- THAP1 c.270_273del Pathogenic/Likely pathogenic ★★ same condition
- THAP1 p.Arg169Ter Pathogenic/Likely pathogenic ★★ same condition
- THAP1 p.Arg29Pro Pathogenic/Likely pathogenic ★★ same condition
- THAP1 p.Arg29Ter Pathogenic/Likely pathogenic ★★ same condition
- THAP1 p.Asn69del Pathogenic/Likely pathogenic ★★ same condition
- THAP1 p.Glu66fs Pathogenic ★★ same condition
- THAP1 p.Gly9Ser 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/thap1-p-cys67fs (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown