COMMD9
Chr 11COMM domain containing 9
Also known as: C11orf55, HSPC166, LINC00610
COMMD9 encodes a scaffold protein that is essential for endosomal recycling of transmembrane cargos as part of the commander complex, and modulates sodium transport in epithelial cells by regulating amiloride-sensitive sodium channel expression at the cell surface. Mutations in COMMD9 cause autosomal recessive neurodevelopmental disorder with microcephaly, seizures, and brain atrophy. The disorder presents in infancy with developmental delays, seizures, and progressive brain volume loss affecting multiple neurological systems.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Typical tolerance to LoF variation
Mild missense constraint
ClinVar Variant Classifications
55 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 | 14 | 0 | 14 |
Likely Pathogenic | 0 | 0 | 1 | 0 | 1 |
VUS | 0 | 20 | 8 | 0 | 28 |
Likely Benign | 0 | 1 | 0 | 0 | 1 |
Benign | 0 | 0 | 1 | 1 | 2 |
| Total | 0 | 21 | 24 | 1 | 46 |
LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
COMMD9 · 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