LAMB3 p.Arg792fs
c.2376del · VCV4855544
Likely pathogenic
Single submitter
Classification
Likely pathogenic
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
Consequence
frameshift
predicted LoF
gnomAD v4.1
Rare
Conditions
1
LAMB3-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 23 |
| Splicing | ||
| SpliceAI | — | not assessed · substitutions only |
| Constraint at this position | ||
| Conservation | phyloP 5.4 | GERP 1.6, phastCons 1 |
Predicted loss-of-function is descriptive, not an applied PVS1 code.
Variant & gene context
- Gene
- LAMB3
- Protein
- p.Arg792fs
- Coding
- c.2376del
- MANE Select
- NM_000228
- Type
- Deletion
- Location
- chr1:209623162 (GRCh38)
- Gene constraint
- LOEUF 0.829 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 78.55
- Residue 792
- the 'domain alpha' region
Disease context
LAMB3-related disorder
Similar variants
- LAMB3 c.3383-1G>A Pathogenic/Likely pathogenic ★★ same condition
- LAMB3 c.823-2A>C Pathogenic/Likely pathogenic ★★ same condition
- LAMB3 p.Arg42Ter Pathogenic ★★ same condition
- LAMB3 p.Arg569Ter Pathogenic ★★ same condition
- LAMB3 p.Arg635Ter Pathogenic ★★ same condition
- LAMB3 p.Asn345fs Pathogenic ★★ same condition
- LAMB3 p.Gln117Ter Pathogenic/Likely pathogenic ★★ same condition
- LAMB3 p.Met1Ile 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/lamb3-p-arg792fs (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown