TTC8 p.Ser155Pro
c.463T>C · rs2546169602 · VCV2636552
Uncertain significance
Single submitter
Classification
Uncertain significance
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Absent
absent from gnomAD v4.1
Conditions
1
TTC8-related disorder
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation carries the signal. | ||
| REVEL | 0.712 | pathogenic-leaning |
|---|---|---|
| Splicing | ||
| SpliceAI | — | not assessed · no allele here is in the release |
| Constraint at this position | ||
| Conservation | phyloP 4.2 | GERP 1.5, phastCons 1 |
| Regional constraint | o/e 0.98 | unconstrained · MANE · 53 kb · p 0.62 · regional, not allelic |
| Overall | ||
| CADD | 23.7 | 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
- TTC8
- Protein
- p.Ser155Pro
- Coding
- c.463T>C
- MANE Select
- NM_144596
- dbSNP
- rs2546169602
- Type
- single nucleotide variant
- Location
- chr14:88841170 (GRCh38)
- Gene constraint
- LOEUF 0.8 · pLI <0.01 · ClinGen HI gene assoc. with recessive phenotype (gnomAD)
- Structure
- AlphaFold pLDDT 84.48
Disease context
TTC8-related disorder
Similar variants
- TTC8 p.Ser155= Likely benign ★★ same residue
- TTC8 c.265+1G>A Pathogenic/Likely pathogenic ★★ same condition
- TTC8 p.Gln86Ter Pathogenic ★★ same condition
- TTC8 p.Thr163= Pathogenic/Likely pathogenic ★★ same condition
- TTC8 p.Trp226Ter Pathogenic/Likely pathogenic ★★ same condition
- TTC8 p.Arg347Trp Uncertain significance ★★ same condition
- TTC8 p.Asn426Ile Uncertain significance ★★ same condition
- TTC8 c.144+1G>T 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/ttc8-p-ser155pro (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown