LCE3C

Chr 1

late cornified envelope 3C

Also known as: LEP15, SPRL3A

NCBI Gene: 353144ENSG00000244057UniProt: Q5T5A8

Involved in defense response to Gram-negative bacterium; defense response to Gram-positive bacterium; and killing of cells of another organism. [provided by Alliance of Genome Resources, Jul 2025]

ResearchGenerating clinical summary…

Clinical highlights

Interpreting a novel variant
This gene is strongly intolerant of loss-of-function variation in the population, so LoF variants warrant close attention. No curated mechanism annotation is available — see the mechanism card for the computational prediction and its caveats.Based on population constraint only.
0
Active trials
0
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
1.47
LOEUF
DN
Mechanism· predicted
Some data sources returned errors (1)

omim: Error: OMIM fetch failed: 429

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint?
1.47LOEUF
pLI 0.475
Z-score 1.21
OE 0.00 (0.00–1.47)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
0.94Z-score
OE missense 0.63 (0.48–0.85)
33 obs / 52.1 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.00 (0.00–1.47)
0≤0.351.4
Missense OE?0.63 (0.48–0.85)
0≤0.61.4
Synonymous OE?0.53
0≤1.21.6
LoF obs/exp: 0 / 1.7Missense obs/exp: 33 / 52.1Syn Z: 1.70

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

LCE3C · protein map & ClinVar variants

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

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

ClinicalTrials.gov

No active trials found for this gene.

Search ClinicalTrials.gov →

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