CTNS c.661insT
Pathogenic
No assertion criteria
Classification
Pathogenic
ClinVar
Review
No assertion criteria ☆☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
Conditions
1
cystinosis
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type. |
Variant & gene context
- Gene
- CTNS
- Coding
- c.661insT
- MANE Select
- NM_004937
- Type
- Insertion
- Gene constraint
- LOEUF 0.754 · pLI <0.01 · ClinGen HI gene assoc. with recessive phenotype (gnomAD)
- Structure
- AlphaFold pLDDT 89.27 · 6 PDB
Disease context
cystinosis — disease report on Sugi Atlas → Associated genes, phenotypes, clinical trials & treatmentsFor Cystinosis (Orphanet):
- Inheritance
- Autosomal recessive
- Onset
- Adolescent, Adult, Childhood, Infancy
- Prevalence
- 1-9 / 1 000 000 (Worldwide)
Similar variants
- CTNS c.140+2T>C Pathogenic/Likely pathogenic ★★ same condition
- CTNS c.225+3A>T Pathogenic/Likely pathogenic ★★ same condition
- CTNS c.225+5_225+6delinsCC Pathogenic/Likely pathogenic ★★ same condition
- CTNS c.225+5G>A Likely pathogenic ★★ same condition
- CTNS c.559_561+24del Pathogenic/Likely pathogenic ★★ same condition
- CTNS c.561+1del Pathogenic/Likely pathogenic ★★ same condition
- CTNS c.61_61+2del Pathogenic/Likely pathogenic ★★ same condition
- CTNS c.61+5G>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/ctns-c-661inst (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown