LSM3
Chr 3LSM3 homolog, U6 small nuclear RNA and mRNA degradation associated
Also known as: SMX4, USS2, YLR438C
LSM3 encodes a component of the LSM2-8 complex that binds to U6 snRNA and functions in pre-mRNA splicing as part of the U4/U6-U5 tri-snRNP complex and precatalytic spliceosome. The gene shows minimal constraint against loss-of-function variants, and no established human disease associations have been reported. Child neurologists should be cautious when interpreting variants in this gene given the lack of clear phenotype-genotype correlations in the literature.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly tolerant — LoF variants common in population
Mild missense constraint
ClinVar Variant Classifications
47 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 | 26 | 0 | 26 |
Likely Pathogenic | 0 | 0 | 1 | 0 | 1 |
VUS | 0 | 14 | 0 | 0 | 14 |
Likely Benign | 0 | 0 | 1 | 0 | 1 |
Benign | 0 | 0 | 1 | 1 | 2 |
| Total | 0 | 14 | 29 | 1 | 44 |
LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
LSM3 · 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