TLE6 p.Thr126fs
c.376del · VCV4796590
Likely pathogenic
Single submitter
Classification
Likely pathogenic
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
Consequence
frameshift
predicted LoF
gnomAD v4.1
Rare
Conditions
1
Preimplantation embryonic lethality 1
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation carries the signal. | ||
| Consequence | frameshift | predicted loss-of-function |
|---|---|---|
| NMD | predicted | premature termination codon in exon 7 of 17 |
| Splicing | ||
| SpliceAI | — | not assessed · substitutions only |
| Constraint at this position | ||
| Conservation | phyloP -0.11 | |
Predicted loss-of-function is descriptive, not an applied PVS1 code.
Variant & gene context
- Gene
- TLE6
- Protein
- p.Thr126fs
- Coding
- c.376del
- MANE Select
- NM_001143986
- Type
- Deletion
- Location
- chr19:2987073 (GRCh38)
- Gene constraint
- LOEUF 1.121 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 66.29 · 4 PDB
Similar variants
- TLE6 p.Ala378fs Pathogenic/Likely pathogenic ★★ same condition
- TLE6 p.Lys269fs Likely pathogenic same condition
- TLE6 p.Gln383Ter Likely pathogenic ★ same condition
- TLE6 p.Gly352Arg Pathogenic ★ same condition
- TLE6 p.Ser510Tyr Likely pathogenic ★ ⚠ same condition
- TLE6 p.Glu117Lys Uncertain significance ★ ⚠ same condition
- TLE6 c.52-46G>A Likely benign ★ same condition
- TLE6 c.1615-5del Likely benign 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/tle6-p-thr126fs (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown