LAMB3 p.Val227fs
c.678del · VCV3911838
Likely pathogenic
Single submitter
Classification
Likely pathogenic
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
Consequence
frameshift
predicted LoF
gnomAD v4.1
Rare
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 8 of 23 |
| Splicing | ||
| SpliceAI | — | not assessed · substitutions only |
| Constraint at this position | ||
| Conservation | phyloP -2.1 | GERP -3.9 |
Predicted loss-of-function is descriptive, not an applied PVS1 code.
Variant & gene context
- Gene
- LAMB3
- Protein
- p.Val227fs
- Coding
- c.678del
- MANE Select
- NM_000228
- Type
- Deletion
- Location
- chr1:209632727 (GRCh38)
- Gene constraint
- LOEUF 0.829 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 78.55
- Residue 227
- the laminin n-terminal domain
Similar variants
- LAMB3 c.2685_2701+2del Likely pathogenic ★★ same type
- LAMB3 c.2911_2938del Pathogenic/Likely pathogenic ★★ same type
- LAMB3 p.Ala1055fs Pathogenic/Likely pathogenic ★★ same type
- LAMB3 p.Ala832fs Pathogenic/Likely pathogenic ★★ same type
- LAMB3 p.Asn456fs Pathogenic/Likely pathogenic ★★ same type
- LAMB3 p.Cys325fs Likely pathogenic ★★ same type
- LAMB3 p.Cys453fs Pathogenic/Likely pathogenic ★★ same type
- LAMB3 p.Cys788fs Pathogenic/Likely pathogenic ★★ 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/lamb3-p-val227fs (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown