DCDC1
Chr 11doublecortin domain containing 1
Also known as: DCDC5
The protein encoded by DCDC1 is a microtubule-binding protein that mediates dynein-dependent transport of vesicles to the midbody during cell division. Mutations in this gene cause dyslexia susceptibility, with an autosomal dominant inheritance pattern. This gene shows tolerance to loss-of-function variants (pLI near 0), suggesting the clinical phenotype may involve complex genetic mechanisms.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly tolerant — LoF variants common in population
Tolerant to missense variation
The highest-scoring mechanism for this gene is dominant-negative.
Note: In-silico variant effect predictors (SIFT, PolyPhen, REVEL, CADD) may underestimate pathogenicity of missense variants in genes with GOF or DN mechanisms. Consider functional evidence and clinical context.
Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312.
ClinVar Variant Classifications
198 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 | 42 | 0 | 42 |
Likely Pathogenic | 0 | 0 | 1 | 0 | 1 |
VUS | 0 | 62 | 21 | 0 | 83 |
Likely Benign | 0 | 10 | 8 | 8 | 26 |
Benign | 1 | 15 | 6 | 7 | 29 |
| Total | 1 | 87 | 78 | 15 | 181 |
LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
DCDC1 · 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