TTC8 p.Ser34=
c.102C>T · rs764582038 · VCV3028296
Uncertain significance
Single submitter
Classification
Uncertain significance
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 2 submitters
gnomAD v4.1
Rare
ultra-rare (popmax 0.0267%, eas)
Conditions
1
inherited retinal dystrophy
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation carries the signal. | ||
| REVEL | 0.112 | moderately benign-leaning |
|---|---|---|
| Splicing | ||
| SpliceAI | — | not assessed · no allele here is in the release |
| Constraint at this position | ||
| Conservation | phyloP 2.1 | GERP 0.75, phastCons 1 |
| Overall | ||
| CADD | 14.8 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.0267%
East Asian · 12/44,860 alleles
Filtering AF
0.0154%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.0121%
Overall
0.00149%
24/1,613,046 alleles · ultra-rare
exomes 22/1,460,892 · genomes 2/152,154 · joint denominator
| Ancestry group | Frequency | 1 in |
|---|---|---|
| East Asiangrpmax | 0.0267% | 3,738 |
| Remaining individualsnot grpmax-eligible | 0.0016% | 62,450 |
| European (non-Finnish) | 0.000933% | 107,236 |
Rarity supports pathogenicity (ACMG PM2); frequency above a disease-specific BA1/BS1 threshold argues against it. A variant frequent in one ancestry group can be near-absent in others, so a single global figure can mislead.
Variant & gene context
- Gene
- TTC8
- Protein
- p.Ser34=
- Coding
- c.102C>T
- MANE Select
- NM_144596
- dbSNP
- rs764582038
- Type
- single nucleotide variant
- Location
- chr14:88824809 (GRCh38)
- Gene constraint
- LOEUF 0.8 · pLI <0.01 · ClinGen HI gene assoc. with recessive phenotype (gnomAD)
- Structure
- AlphaFold pLDDT 84.48
Similar variants
- TTC8 c.265+1G>A Pathogenic/Likely pathogenic ★★ same condition
- TTC8 p.Thr163= Pathogenic/Likely pathogenic ★★ same condition
- TTC8 p.Trp226Ter Pathogenic/Likely pathogenic ★★ same condition
- TTC8 p.Ala145Thr Uncertain significance ★★ same condition
- TTC8 p.Arg89Cys Uncertain significance ★★ same condition
- TTC8 p.Ile84Val Uncertain significance ★★ same condition
- TTC8 p.Phe348Leu Uncertain significance ★★ same condition
- TTC8 p.Thr163Met 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-ser34 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown