SAMD1
Chr 19sterile alpha motif domain containing 1
The protein binds to unmethylated CpG islands and acts as a transcriptional repressor by recruiting histone-modifying complexes to regulate chromatin structure. Biallelic mutations in SAMD1 cause a severe neurodevelopmental disorder with early infantile onset characterized by intellectual disability, seizures, and brain malformations. This gene follows autosomal recessive inheritance and shows moderate constraint against loss-of-function variants.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Typical tolerance to LoF variation
Mild missense constraint
ClinVar Variant Classifications
38 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 | 11 | 0 | 11 |
Likely Pathogenic | 0 | 0 | 1 | 0 | 1 |
VUS | 0 | 15 | 3 | 0 | 18 |
Likely Benign | 0 | 0 | 1 | 3 | 4 |
Benign | 0 | 0 | 0 | 0 | 0 |
| Total | 0 | 15 | 16 | 3 | 34 |
LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
SAMD1 · 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