MTTP p.Thr787fs
c.2357dup · VCV4967909
Likely pathogenic
Single submitter
Classification
Likely pathogenic
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
Consequence
frameshift
predicted LoF
gnomAD v4.1
Rare
Conditions
1
MTTP-related disorder
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 17 of 18 |
| Splicing | ||
| SpliceAI | — | not assessed · substitutions only |
| Constraint at this position | ||
| Conservation | phyloP -0.092 | GERP -3.1 |
Predicted loss-of-function is descriptive, not an applied PVS1 code.
Variant & gene context
- Gene
- MTTP
- Protein
- p.Thr787fs
- Coding
- c.2357dup
- MANE Select
- NM_001386140
- Type
- Duplication
- Location
- chr4:99621074 (GRCh38)
- Gene constraint
- LOEUF 0.672 · pLI <0.01 · ClinGen HI gene assoc. with recessive phenotype (gnomAD)
- Structure
- AlphaFold pLDDT 86.73 · 2 PDB
- Residue 787
- a β-strand
Disease context
MTTP-related disorder
Similar variants
- MTTP p.Asn140fs Pathogenic ★★ same condition
- MTTP p.Glu134fs Pathogenic/Likely pathogenic ★★ same condition
- MTTP p.Val854fs Likely pathogenic ★ same condition
- MTTP c.1236+1G>A Pathogenic/Likely pathogenic ★★ same condition
- MTTP c.1867+1G>A Pathogenic ★★ same condition
- MTTP c.1867+5G>A Pathogenic/Likely pathogenic ★★ same condition
- MTTP c.619-1G>C Likely pathogenic ★★ same condition
- MTTP p.Ala214fs 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/mttp-p-thr787fs (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown