TTC8 p.Asp68Val
c.203A>T · VCV4922817
Uncertain significance
Single submitter
Classification
Uncertain significance
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
very rare (popmax 0.000254%, nfe)
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation carries the signal. | ||
| REVEL | 0.418 | indeterminate |
|---|---|---|
| Splicing | ||
| SpliceAI | — | not assessed · no allele here is in the release |
| Constraint at this position | ||
| Conservation | phyloP 11 | GERP 1.9, phastCons 1 |
| Regional constraint | o/e 0.98 | unconstrained · MANE · 53 kb · p 0.62 · regional, not allelic |
| Overall | ||
| CADD | 25.7 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.000254%
European (non-Finnish) · 3/1,179,548 alleles
Filtering AF
6.8e-05%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 1.9e-05%
Overall
0.000186%
3/1,613,338 alleles · very rare
exomes 3/1,461,084 · genomes 0/152,254 · joint denominator
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.Asp68Val
- Coding
- c.203A>T
- MANE Select
- NM_144596
- Type
- single nucleotide variant
- Location
- chr14:88839510 (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.114+2T>C Pathogenic/Likely pathogenic ★★ same type
- TTC8 c.265+1G>A Pathogenic/Likely pathogenic ★★ same type
- TTC8 c.799-2A>G Likely pathogenic ★★ same type
- TTC8 p.Gln187Ter Pathogenic/Likely pathogenic ★★ same type
- TTC8 p.Gln247Ter Pathogenic/Likely pathogenic ★★ same type
- TTC8 p.Gln86Ter Pathogenic ★★ same type
- TTC8 p.Thr163= Pathogenic/Likely pathogenic ★★ same type
- TTC8 p.Trp226Ter Pathogenic/Likely pathogenic ★★ same type
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-asp68val (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown