WASHC2C
Chr 10WASH complex subunit 2C
Also known as: FAM21A, FAM21C, VPEF
The protein functions as a component of the WASH core complex that activates actin polymerization at endosome surfaces, mediating endosomal transport and recycling of membrane proteins through binding to phospholipids and the retromer complex. Mutations cause autosomal recessive intellectual disability with seizures and spastic paraplegia, typically presenting in early childhood. The gene shows very low constraint to loss-of-function variants, consistent with a recessive inheritance pattern.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Typical tolerance to LoF variation
Tolerant to missense variation
ClinVar Variant Classifications
224 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 | 20 | 0 | 20 |
Likely Pathogenic | 0 | 0 | 4 | 0 | 4 |
VUS | 0 | 152 | 6 | 0 | 158 |
Likely Benign | 0 | 13 | 3 | 4 | 20 |
Benign | 0 | 0 | 2 | 0 | 2 |
Conflicting | — | 1 | |||
| Total | 0 | 165 | 35 | 4 | 205 |
LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
WASHC2C · 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 →No open access results found
External Resources
Links to major genomics databases and tools