MCPH1
Chr 8ARmicrocephalin 1
Also known as: BRIT1, MCT
The protein functions as a DNA damage response protein that maintains inhibitory phosphorylation of cyclin-dependent kinase 1 during G2/M checkpoint arrest. Mutations cause primary autosomal recessive microcephaly 1 and premature chromosome condensation syndrome, inherited in an autosomal recessive pattern. Loss of function leads to defective cell cycle checkpoint control, resulting in abnormal chromosome condensation and impaired brain development.
Definitive — sufficient evidence for diagnostic panels
3 total gene-disease associations curated
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly tolerant — LoF variants common in population
Tolerant to missense variation
ClinVar Variant Classifications
400 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 | 12 | 0 | 19 | 0 | 31 |
Likely Pathogenic | 36 | 1 | 0 | 0 | 37 |
VUS | 3 | 79 | 8 | 0 | 90 |
Likely Benign | 2 | 6 | 71 | 124 | 203 |
Benign | 1 | 2 | 2 | 0 | 5 |
Conflicting | — | 3 | |||
| Total | 54 | 88 | 100 | 124 | 369 |
LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
MCPH1 · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
3D Protein StructureAlphaFold
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