VMO1
Chr 17vitelline membrane outer layer 1 homolog
Also known as: ERGA6350, PRO21055
VMO1 encodes a protein found in extracellular exosomes, though its specific function remains unclear. The gene shows very high constraint against loss-of-function variants (pLI near 1.0), suggesting that biallelic mutations would likely be lethal or cause severe developmental disorders, but no specific disease associations have been established. Based on the constraint data, any associated phenotype would likely follow autosomal recessive inheritance with early onset.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly tolerant — LoF variants common in population
Tolerant to missense variation
The highest-scoring mechanism for this gene is dominant-negative.
Note: In-silico variant effect predictors (SIFT, PolyPhen, REVEL, CADD) may underestimate pathogenicity of missense variants in genes with GOF or DN mechanisms. Consider functional evidence and clinical context.
Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312.
ClinVar Variant Classifications
76 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 | 21 | 0 | 21 |
Likely Pathogenic | 0 | 0 | 1 | 0 | 1 |
VUS | 1 | 35 | 11 | 0 | 47 |
Likely Benign | 0 | 4 | 1 | 0 | 5 |
Benign | 0 | 0 | 0 | 0 | 0 |
| Total | 1 | 39 | 34 | 0 | 74 |
LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
VMO1 · 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