TRNT1 p.Ala136=
c.408T>G · rs2471301732 · VCV3027541
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
inherited retinal dystrophy
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 -8.8 | GERP -4.8 |
| Overall | ||
| CADD | 1.71 | 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
- TRNT1
- Protein
- p.Ala136=
- Coding
- c.408T>G
- MANE Select
- NM_182916
- dbSNP
- rs2471301732
- Type
- single nucleotide variant
- Location
- chr3:3140575 (GRCh38)
- Gene constraint
- LOEUF 1.232 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 90.00 · 3 PDB
Similar variants
- TRNT1 p.Ala136Gly Uncertain significance ★ ⚠ same residue
- TRNT1 p.Arg150His Uncertain significance ★★ ⚠ same condition
- TRNT1 p.His57Gln Uncertain significance ★★ ⚠ same condition
- TRNT1 p.Ile431Val Uncertain significance ★★ ⚠ same condition
- TRNT1 p.Tyr259Cys Uncertain significance ★★ ⚠ same condition
- TRNT1 p.Asp260= Likely benign ★★ same condition
- TRNT1 p.Ile315= Benign/Likely benign ★★ same condition
- TRNT1 p.Pro23Ala Benign/Likely benign ★★ 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/trnt1-p-ala136 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown