TTC8 p.Ala513=
c.1539T>C · VCV3356198
Likely benign
No assertion criteria
Classification
Likely benign
ClinVar
Review
No assertion criteria ☆☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
very rare (popmax 0.000254%, nfe)
Conditions
1
TTC8-related disorder
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation carries the signal. | ||
| REVEL | 0.022 | moderately benign-leaning |
|---|---|---|
| Splicing | ||
| SpliceAI | — | not assessed · no allele here is in the release |
| Constraint at this position | ||
| Conservation | phyloP -0.34 | GERP -2.5 |
| Overall | ||
| CADD | 6.627 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.000254%
European (non-Finnish) · 3/1,178,962 alleles
Filtering AF
6.8e-05%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 1.9e-05%
Overall
0.000186%
3/1,612,770 alleles · very rare
exomes 2/1,460,560 · genomes 1/152,210 · 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.Ala513=
- Coding
- c.1539T>C
- MANE Select
- NM_144596
- Type
- single nucleotide variant
- Location
- chr14:88877401 (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.Ala513Thr 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
- 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-ala513 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown