LSM10
Chr 1LSM10, U7 small nuclear RNA associated
Also known as: MST074, MSTP074
LSM10 encodes a protein that binds U7 snRNA and functions in the U7 snRNP complex required for histone 3'-end processing and cell cycle progression from G1 to S phases. Mutations in LSM10 cause microcephaly with or without chorioretinopathy, lymphedema, or mental retardation (MCLMR), an autosomal recessive disorder presenting with primary microcephaly and variable additional features including intellectual disability and ocular abnormalities. The gene shows tolerance to loss-of-function variation with a low probability of haploinsufficiency (pLI = 0.004).
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly tolerant — LoF variants common in population
Mild missense constraint
ClinVar Variant Classifications
31 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 | 6 | 0 | 6 |
Likely Pathogenic | 0 | 0 | 2 | 0 | 2 |
VUS | 0 | 17 | 3 | 0 | 20 |
Likely Benign | 0 | 0 | 0 | 0 | 0 |
Benign | 0 | 0 | 0 | 0 | 0 |
| Total | 0 | 17 | 11 | 0 | 28 |
LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
LSM10 · 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