TTC8 p.Ser475=
c.1425T>G · VCV3356628
Likely benign
No assertion criteria
Classification
Likely benign
ClinVar
Review
No assertion criteria ☆☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Not reported
no allele count reported in gnomAD v4.1 (AN 1,609,396)
Conditions
1
TTC8-related disorder
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 1.5 | GERP 1.7, phastCons 1 |
| Overall | ||
| CADD | 8.248 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
No allele count reported in gnomAD v4.1 (AN 1,609,396). This is missing data, not an absence: the variant may or may not be present in gnomAD. Rarity (ACMG PM2) and BA1/BS1 cannot be assessed for it.
Variant & gene context
- Gene
- TTC8
- Protein
- p.Ser475=
- Coding
- c.1425T>G
- MANE Select
- NM_144596
- Type
- single nucleotide variant
- Location
- chr14:88875103 (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.Ser475Phe Uncertain significance ★ same residue
- TTC8 p.Ser475Thr Uncertain significance ★ 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
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-ser475 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown