SAMD11
Chr 1sterile alpha motif domain containing 11
Also known as: MRS
SAMD11 encodes a component of a Polycomb repressive complex (PRC1) that silences non-rod gene expression to establish rod photoreceptor cell identity and function during retinal development. Mutations cause autosomal recessive retinal dystrophy with early childhood onset, leading to progressive vision loss. The gene shows minimal constraint against loss-of-function variants in the general population.
Primary Disease Associations & Inheritance
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly tolerant — LoF variants common in population
Tolerant to missense variation
ClinVar Variant Classifications
400 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 | 8 | 0 | 8 |
Likely Pathogenic | 0 | 0 | 0 | 0 | 0 |
VUS | 10 | 140 | 16 | 0 | 166 |
Likely Benign | 0 | 4 | 82 | 125 | 211 |
Benign | 0 | 0 | 3 | 2 | 5 |
Conflicting | — | 1 | |||
| Total | 10 | 144 | 109 | 127 | 391 |
LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
SAMD11 · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
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