SNRPD1
Chr 18small nuclear ribonucleoprotein D1 polypeptide
Also known as: HsT2456, SMD1, SNRPD, Sm-D1
The protein is a core component of small nuclear ribonucleoproteins (snRNPs) that are essential building blocks of the spliceosome, functioning in pre-mRNA splicing of both major and minor (U12-type) introns. Mutations cause autosomal recessive neurodevelopmental disorders with early childhood onset, typically involving intellectual disability, seizures, and brain malformations. The gene is highly constrained against loss-of-function variants (LOEUF 0.564), reflecting the critical importance of proper splicing for normal development.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
More LoF-intolerant than ~75% of genes
Moderately missense-constrained (top ~2.5%)
The highest-scoring mechanism for this gene is loss-of-function (haploinsufficiency).
Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312.
ClinVar Variant Classifications
51 submitted variants in ClinVar
Classification Summary
Curated Variants Distribution
Classified variants from ClinVar · 5 ACMG categories· variant type breakdown unavailable
| Classification | LoF | Missense + Inframe | Non-coding | Synonymous | Total |
|---|---|---|---|---|---|
Pathogenic | — | — | — | — | 30 |
Likely Pathogenic | — | — | — | — | 1 |
VUS | — | — | — | — | 11 |
Likely Benign | — | — | — | — | 0 |
Benign | — | — | — | — | 0 |
| Total | — | 42 | |||
Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
SNRPD1 · 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