THBD p.Met1fs
c.-6_7delinsCTT · VCV4855805
Uncertain significance
Single submitter
Classification
Uncertain significance
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
Consequence
frameshift
predicted LoF
gnomAD v4.1
Rare
Conditions
1
atypical hemolytic-uremic syndrome with thrombomodulin anomaly
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation carries the signal. | ||
| Consequence | frameshift | predicted loss-of-function |
|---|---|---|
| NMD | escapes | premature termination codon in the last exon (1 of 1) — the truncated protein is likely expressed. PVS1 input, not an applied code |
| Splicing | ||
| SpliceAI | — | not assessed · substitutions only |
| Constraint at this position | ||
| Conservation | phyloP 0.004 | GERP -3.5 |
Predicted loss-of-function is descriptive, not an applied PVS1 code.
Variant & gene context
- Gene
- THBD
- Protein
- p.Met1fs
- Coding
- c.-6_7delinsCTT
- MANE Select
- NM_000361
- Type
- Indel
- Location
- chr20:23049498 (GRCh38)
- Gene constraint
- LOEUF 1.938 · pLI 0.05 (gnomAD)
- Structure
- AlphaFold pLDDT 79.35 · 13 PDB
Similar variants
- THBD p.Ala139Ser Uncertain significance ★★ ⚠ same condition
- THBD p.Ala284Gly Uncertain significance ★★ ⚠ same condition
- THBD p.Ala395Val Uncertain significance ★★ ⚠ same condition
- THBD p.Ala471Thr Uncertain significance ★★ ⚠ same condition
- THBD p.Ala545Thr Uncertain significance ★★ ⚠ same condition
- THBD p.Arg101Leu Uncertain significance ★★ ⚠ same condition
- THBD p.Arg315Leu Uncertain significance ★★ ⚠ same condition
- THBD p.Arg567Gln 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/thbd-p-met1fs (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown