LAMB1 p.Pro379=
c.1137G>A · rs55675243 · VCV384932
Benign
Multiple submitters
Classification
Benign
ClinVar
Review
Multiple submitters ★★☆☆
ClinVar · 3 submitters
gnomAD v4.1
Rare
low-frequency (popmax 4.77%, afr)
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation carries the signal. | ||
| Splicing | ||
| SpliceAI | — | not assessed · no allele here is in the release |
|---|---|---|
| Constraint at this position | ||
| Conservation | phyloP -15 | GERP -5 |
| Overall | ||
| CADD | 1.578 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
4.77%
African / African-American · 3,569/74,886 alleles
Filtering AF
4.64%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 4.58%
Overall
0.26%
4,188/1,613,226 alleles · low-frequency
exomes 2,115/1,461,164 · genomes 2,073/152,062 · joint denominator
| Ancestry group | Frequency | 1 in |
|---|---|---|
| African / African-Americangrpmax | 4.77% | 21 |
| Remaining individualsnot grpmax-eligible | 0.323% | 309 |
| Admixed American | 0.266% | 377 |
| Middle Eastern | 0.099% | 1,010 |
| European (non-Finnish) | 0.0207% | 4,835 |
| South Asian | 0.0066% | 15,149 |
| East Asian | 0.00446% | 22,432 |
Rarity supports pathogenicity (ACMG PM2); frequency above a disease-specific BA1/BS1 threshold argues against it. A variant frequent in one ancestry group can be near-absent in others, so a single global figure can mislead.
Variant & gene context
- Gene
- LAMB1
- Protein
- p.Pro379=
- Coding
- c.1137G>A
- MANE Select
- NM_002291
- dbSNP
- rs55675243
- Type
- single nucleotide variant
- Location
- chr7:107975741 (GRCh38)
- Gene constraint
- LOEUF 0.601 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 76.99 · 3 PDB
- Residue 379
- the laminin egf-like 2 domain; a UniProt-annotated variant site (in)
Similar variants
- LAMB1 p.Pro379Ser Benign ★★ same residue
- LAMB1 p.Pro379Leu Uncertain significance ★ ⚠ same residue
- LAMB1 c.4188+1G>C Pathogenic/Likely pathogenic ★★ same type
- LAMB1 p.Arg397Ter Pathogenic ★★ same type
- LAMB1 p.Gln577Ter Pathogenic ★★ same type
- LAMB1 c.1985+5G>T Uncertain significance ★★ same type
- LAMB1 c.4746-3C>A Uncertain significance ★★ same type
- LAMB1 p.Ala1069Val Uncertain significance ★★ ⚠ 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/lamb1-p-pro379 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown