SAMHD1

Chr 20

SAM and HD domain containing deoxynucleoside triphosphate triphosphohydrolase 1

Also known as: CHBL2, DCIP, HDDC1, MOP-5, SBBI88, hSAMHD1

NCBI Gene: 25939ENSG00000101347UniProt: Q9Y3Z3

This gene may play a role in regulation of the innate immune response. The encoded protein is upregulated in response to viral infection and may be involved in mediation of tumor necrosis factor-alpha proinflammatory responses. Mutations in this gene have been associated with Aicardi-Goutieres syndrome. [provided by RefSeq, Mar 2010]

GeneReviewsResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

UniProtAicardi-Goutieres syndrome 5
UniProtChilblain lupus 2

Clinical highlights

Gene-disease validity (ClinGen)
SAMHD1-related type 1 interferonopathy · ARDefinitivesufficient evidence for diagnostic panels
Interpreting a novel variant
Loss of function is the curated mechanism (Gene2Phenotype), though the gene is not strongly LoF-constrained in the population — weigh truncating variants against that tolerance.Curated gene-level mechanism — a prior for triage, not a per-variant call.
0
Active trials
118
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
0.94
LOEUF
LOF
Mechanism· G2P
📖
GeneReview available — SAMHD1
Authoritative clinical overview · Recommended first read
Open GeneReview ↗
Some data sources returned errors (1)

omim: Error: OMIM fetch failed: 429

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint?
0.94LOEUF
pLI 0.000
Z-score 1.86
OE 0.67 (0.49–0.94)
Tolerant

Typical tolerance to LoF variation

Missense Constraint?
1.55Z-score
OE missense 0.77 (0.69–0.85)
267 obs / 348.3 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.67 (0.49–0.94)
0≤0.351.4
Missense OE?0.77 (0.69–0.85)
0≤0.61.4
Synonymous OE?0.90
0≤1.21.6
LoF obs/exp: 25 / 37.2Missense obs/exp: 267 / 348.3Syn Z: 0.89

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

SAMHD1 · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

ClinicalTrials.gov

No active trials found for this gene.

Search ClinicalTrials.gov →

External Resources

Links to major genomics databases and tools

Franklin by Genoox
AI-powered variant curation and clinical analysis
DECIPHER
Genomic variants and phenotypes in rare disease patients