SMNDC1

Chr 10

survival motor neuron domain containing 1

Also known as: SMNR, SPF30, TDRD16C

NCBI Gene: 10285ENSG00000119953UniProt: O75940OMIM: 603519

This gene is a paralog of SMN1 gene, which encodes the survival motor neuron protein, mutations in which are cause of autosomal recessive proximal spinal muscular atrophy. The protein encoded by this gene is a nuclear protein that has been identified as a constituent of the spliceosome complex. This gene is differentially expressed, with abundant levels in skeletal muscle, and may share similar cellular function as the SMN1 gene. [provided by RefSeq, Jul 2008]

OMIMResearchGenerating clinical summary…

Clinical highlights

Interpreting a novel variant
This gene is strongly intolerant of loss-of-function variation in the population, so LoF variants warrant close attention. No curated mechanism annotation is available — see the mechanism card for the computational prediction and its caveats.Based on population constraint only.
0
Active trials
3
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
0.53
LOEUF
—
Mechanism

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Moderate LoF intolerance
LoF Constraint?
0.53LOEUF
pLI 0.638
Z-score 2.66
OE 0.17 (0.07–0.53)
Moderately constrained

More LoF-intolerant than ~75% of genes

Missense Constraint?
2.48Z-score
OE missense 0.35 (0.27–0.45)
40 obs / 115.0 exp
Mild constraint

Moderately missense-constrained (top ~2.5%)

Observed / Expected Ratios?
LoF OE?0.17 (0.07–0.53)
0≤0.351.4
Missense OE?0.35 (0.27–0.45)
0≤0.61.4
Synonymous OE?0.74
0≤1.21.6
LoF obs/exp: 2 / 11.9Missense obs/exp: 40 / 115.0Syn Z: 1.32

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

SMNDC1 · 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