LAMC3

Chr 9AR

laminin subunit gamma 3

Also known as: OCCM

NCBI Gene: 10319ENSG00000050555UniProt: Q9Y6N6OMIM: 604349

Encodes the gamma-3 chain of laminin, an extracellular matrix glycoprotein that mediates cell attachment, migration and organization during embryonic development, particularly at basement membranes of the dermal-epidermal junction and ciliated epithelial surfaces. Mutations cause cortical malformations affecting the occipital region through autosomal recessive inheritance. This gene shows tolerance to loss-of-function variants in the population, which may contribute to the recessive inheritance pattern observed clinically.

OMIMResearchSummary from RefSeq, OMIM, UniProt
LOFmechanismARLOEUF 0.841 OMIM phenotype
Clinical Summary— LAMC3
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Gene-Disease Validity (ClinGen)
complex neurodevelopmental disorder · ADDisputed

Disputed — evidence questions this relationship

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Population Constraint (gnomAD)
Low constraint (pLI 0.00) — loss-of-function variants are relatively tolerated in the population.
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ClinVar Variants
20 unique Pathogenic / Likely Pathogenic· 80 VUS of 200 total submissions
Explore recent and relevant literature in Research Assistant →

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint
0.84LOEUF
pLI 0.000
Z-score 2.67
OE 0.66 (0.52–0.84)
Tolerant

Typical tolerance to LoF variation

Missense Constraint
-0.43Z-score
OE missense 1.04 (0.98–1.10)
965 obs / 928.1 exp
Tolerant

Tolerant to missense variation

Observed / Expected Ratios
LoF OE0.66 (0.52–0.84)
0≤0.351.4
Missense OE1.04 (0.98–1.10)
0≤0.61.4
Synonymous OE1.01
0≤1.21.6
LoF obs/exp: 48 / 72.6Missense obs/exp: 965 / 928.1Syn Z: -0.13
Curated Mechanism (G2P)Gene2Phenotype (DDG2P) ↗
definitiveLAMC3-related occipital cortical malformationsLOFAR

Predictions shown for reference only — model trained on dominant genes, not applicable to AR conditions.

DN
0.6937th %ile
GOF
0.78top 25%
LOF
0.2289th %ile

The Badonyi & Marsh prediction model was trained exclusively on dominant disease genes. Predictions are not reliable for genes with autosomal recessive inheritance and are shown at reduced opacity for reference only.

Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312.

ClinVar Variant Classifications

200 submitted variants in ClinVar

ClinVar

Classification Summary

Pathogenic14
Likely Pathogenic6
VUS80
Likely Benign100
14
Pathogenic
6
Likely Pathogenic
80
VUS
100
Likely Benign

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

ClassificationLoFMissense + InframeNon-codingSynonymousTotal
Pathogenic
9
0
5
0
14
Likely Pathogenic
6
0
0
0
6
VUS
0
73
5
2
80
Likely Benign
0
1
41
58
100
Benign
0
0
0
0
0
Total15745160200

LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly

View in ClinVar →

Protein Context — Lollipop Plot

LAMC3 · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.

3D Protein StructureAlphaFold

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

ClinicalTrials.gov

No active trials found for this gene.

Search ClinicalTrials.gov →
Clinical Literature
Open Research Assistant →
Full-Text Mentions
NLP-detected gene mentions in article bodies · via PubTator3
PubTator3
Top 4 full-text resultsSearch PubTator3 ↗
Key Publications
Landmark & review papers · by relevance
PubMed
Top 5 results · since 2015Search PubMed ↗
Recent Gene-Specific Literature
Gene in title · MEDLINE · newest first
Europe PMC
Top 5 resultsSearch Europe PMC ↗

External Resources

Links to major genomics databases and tools

Franklin by Genoox
AI-powered variant curation and clinical analysis
DECIPHER
Genomic variants and phenotypes in rare disease patients