CTNS p.Val201=
c.603G>C · rs912410408 · VCV1102849
Likely benign
Single submitter
Classification
Likely benign
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Absent
absent from gnomAD v4.1
Conditions
2
ocular cystinosis
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation carries the signal. | ||
| Splicing | ||
| SpliceAI | — | not assessed · no allele here is in the release |
|---|---|---|
| Constraint at this position | ||
| Conservation | phyloP 2.1 | GERP -0.78, phastCons 1 |
| Overall | ||
| CADD | 7.372 | PHRED · no single calibrated threshold — expert panels disagree |
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
- CTNS
- Protein
- p.Val201=
- Coding
- c.603G>C
- MANE Select
- NM_004937
- dbSNP
- rs912410408
- Type
- single nucleotide variant
- Location
- chr17:3656717 (GRCh38)
- 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
ocular cystinosis — disease report on Sugi Atlas → Associated genes, phenotypes, clinical trials & treatmentsAlso linked: juvenile nephropathic cystinosis
For Cystinosis (Orphanet):
- Inheritance
- Autosomal recessive
- Onset
- Adolescent, Adult, Childhood, Infancy
- Prevalence
- 1-9 / 1 000 000 (Worldwide)
Similar variants
- CTNS c.140+1G>T Pathogenic/Likely pathogenic ★★ same condition
- CTNS c.140+2T>C Pathogenic/Likely pathogenic ★★ same condition
- CTNS c.141-1G>A Pathogenic/Likely pathogenic ★★ same condition
- CTNS c.141-24T>C Pathogenic ★★ same condition
- CTNS c.225+3A>T Pathogenic/Likely pathogenic ★★ same condition
- CTNS c.225+5G>A Likely pathogenic ★★ same condition
- CTNS c.61+2T>C 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-p-val201 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown