TULP1 p.Ser152fs
c.453dup · VCV3906949
Pathogenic
Single submitter
Classification
Pathogenic
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
Consequence
frameshift
predicted LoF
gnomAD v4.1
Rare
Conditions
1
retinitis pigmentosa 14
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation carries the signal. | ||
| Consequence | frameshift | predicted loss-of-function |
|---|---|---|
| NMD | predicted | premature termination codon in exon 5 of 15 |
| Splicing | ||
| SpliceAI | — | not assessed · substitutions only |
| Constraint at this position | ||
| Conservation | phyloP 0.51 | GERP 0.41, phastCons 0.013 |
Predicted loss-of-function is descriptive, not an applied PVS1 code.
Variant & gene context
- Gene
- TULP1
- Protein
- p.Ser152fs
- Coding
- c.453dup
- MANE Select
- NM_003322
- Type
- Duplication
- Location
- chr6:35510906 (GRCh38)
- Gene constraint
- LOEUF 1.019 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 66.10 · 2 PDB
- Residue 152
- the 'disordered' region
Disease context
retinitis pigmentosa 14 — disease report on Sugi Atlas → Associated genes, phenotypes, clinical trials & treatmentsFor Retinitis pigmentosa (Orphanet):
- Inheritance
- Autosomal dominant, Autosomal recessive, Mitochondrial inheritance
- Onset
- Adolescent, Adult, Childhood
- Prevalence
- 1-5 / 10 000 (Europe)
Similar variants
- TULP1 p.Thr55fs Pathogenic/Likely pathogenic ★★ same condition
- TULP1 p.Gly270fs Likely pathogenic ★ same condition
- TULP1 p.Tyr520fs Likely pathogenic ★ same condition
- TULP1 p.Ser152= Likely benign ★ same residue
- TULP1 c.1495+1G>A Pathogenic/Likely pathogenic ★★ same condition
- TULP1 c.1496-6C>A Pathogenic/Likely pathogenic ★★ same condition
- TULP1 c.718+2T>C Pathogenic ★★ same condition
- TULP1 c.99+1G>A 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/tulp1-p-ser152fs (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown