SVEP1
Chr 9sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1
Also known as: C9orf13, CCP22, POLYDOM, SEL-OB, SELOB
The SVEP1 protein enables integrin binding and is required for embryonic lymphatic vascular development, including lymphatic endothelial cell migration and formation of lymphovenous contact sites, while also regulating vascular smooth muscle contraction and platelet activation. Mutations cause autosomal recessive primary lymphedema with additional features including cutis laxa, cardiac septal defects, and intellectual disability. The high pLI score (0.9999) and low LOEUF score (0.254) indicate the gene is highly intolerant to loss-of-function variants, suggesting pathogenicity results from loss of protein function.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly LoF-intolerant (top ~10% of genes)
Mild missense constraint
ClinVar Variant Classifications
495 submitted variants in ClinVar
Classification Summary
Curated Variants Distribution
Classified variants from ClinVar · 5 ACMG categories
| Classification | LoF | Missense + Inframe | Non-coding | Synonymous | Total |
|---|---|---|---|---|---|
Pathogenic | 0 | 0 | 28 | 0 | 28 |
Likely Pathogenic | 0 | 0 | 5 | 0 | 5 |
VUS | 0 | 370 | 4 | 0 | 374 |
Likely Benign | 0 | 16 | 3 | 13 | 32 |
Benign | 0 | 0 | 0 | 0 | 0 |
Conflicting | — | 2 | |||
| Total | 0 | 386 | 40 | 13 | 441 |
LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
SVEP1 · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
3D Protein StructureAlphaFold
External Resources
Links to major genomics databases and tools
Clinical Trials
Active and recruiting trials from ClinicalTrials.gov
No active trials found for this gene.
Search ClinicalTrials.gov →External Resources
Links to major genomics databases and tools