MTCL1
Chr 18microtubule crosslinking factor 1
Also known as: CCDC165, KIAA0802, SOGA2
MTCL1 encodes a microtubule-associated protein that regulates microtubule dynamics in polarized epithelial cells and is required for faithful chromosome segregation during mitosis. Mutations cause autosomal recessive microcephaly, seizures, and developmental delay. This gene is highly constrained against loss-of-function variants, suggesting that complete loss of protein function is likely pathogenic.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
More LoF-intolerant than ~75% of genes
Tolerant to missense variation
ClinVar Variant Classifications
477 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 | 100 | 0 | 100 |
Likely Pathogenic | 0 | 0 | 2 | 0 | 2 |
VUS | 0 | 292 | 11 | 0 | 303 |
Likely Benign | 0 | 40 | 2 | 7 | 49 |
Benign | 0 | 3 | 0 | 4 | 7 |
Conflicting | — | 1 | |||
| Total | 0 | 335 | 115 | 11 | 462 |
LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
MTCL1 · 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