TVP23C-CDRT4
Chr 17TVP23C-CDRT4 readthrough
Also known as: FAM18B2-CDRT4
This locus encodes a readthrough fusion protein that combines sequences from the trans-Golgi network vesicle protein TVP23C with CDRT4, though the specific function of this fusion protein remains unclear. Mutations cause autosomal recessive developmental and epileptic encephalopathy with microcephaly, typically presenting in early infancy with severe intellectual disability and refractory seizures. The gene shows very low constraint against loss-of-function variants, suggesting haploinsufficiency is likely tolerated.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly tolerant — LoF variants common in population
Mild missense constraint
ClinVar Variant Classifications
153 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 | 116 | 0 | 116 |
Likely Pathogenic | 0 | 0 | 3 | 0 | 3 |
VUS | 0 | 20 | 5 | 0 | 25 |
Likely Benign | 0 | 5 | 2 | 1 | 8 |
Benign | 0 | 0 | 0 | 0 | 0 |
| Total | 0 | 25 | 126 | 1 | 152 |
LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
TVP23C-CDRT4 · 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 →No open access results found
External Resources
Links to major genomics databases and tools