MID1 p.Val440fs
c.1313_1316dup · VCV4082029
Pathogenic
No assertion criteria
Classification
Pathogenic
ClinVar
Review
No assertion criteria ☆☆☆☆
ClinVar · 1 submitter
Consequence
frameshift
predicted LoF
gnomAD v4.1
Rare
Conditions
1
X-linked Opitz G/BBB syndrome
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation carries the signal. | ||
| Consequence | frameshift | predicted loss-of-function in a haploinsufficient gene (ClinGen) |
|---|---|---|
| NMD | predicted | premature termination codon in exon 8 of 10 |
| Splicing | ||
| SpliceAI | — | not assessed · substitutions only |
| Constraint at this position | ||
| Conservation | phyloP -1.5 | GERP -3.9 |
Predicted loss-of-function is descriptive, not an applied PVS1 code.
Variant & gene context
- Gene
- MID1
- Protein
- p.Val440fs
- Coding
- c.1313_1316dup
- MANE Select
- NM_000381
- Type
- Duplication
- Location
- chrX:10459776 (GRCh38)
- Structure
- AlphaFold pLDDT 86.51 · 5 PDB
- Residue 440
- the fibronectin type-iii domain
Similar variants
- MID1 p.Ser483fs Pathogenic ★★ same condition
- MID1 p.Lys564fs Likely pathogenic ★ same condition
- MID1 p.Ser538Ter Pathogenic ★ same condition
- MID1 p.Tyr627Ter Likely pathogenic ★ same condition
- MID1 p.His541_Tyr542insLeuPheIleAspSerGlyArgHis Uncertain significance ★ same condition
- MID1 p.Glu520fs Pathogenic same condition
- MID1 p.Asp537_Ser538insAsp Uncertain significance same condition
- MID1 p.Ala130Thr Pathogenic/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/mid1-p-val440fs (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown