TRAPPC4 — 70 ClinVar variants
All ClinVar germline TRAPPC4 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 40 flagged for review →
1 Pathogenic/Likely pathogenic · 3 Likely pathogenic · 18 Benign · 5 Likely benign · 43 Uncertain significance
Full TRAPPC4 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 40
Variants where the independent computational evidence doesn't line up with the clinical picture — a QC signal for a second look, not a reclassification.
Predictors lean, ClinVar uncertain 32
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- TRAPPC4 p.Ala212Ser Uncertain significance Single submitter
- TRAPPC4 p.Ala2Ser Uncertain significance Single submitter
- TRAPPC4 p.Ala65Val Uncertain significance Single submitter
- TRAPPC4 p.Arg25Gln Uncertain significance Single submitter
- TRAPPC4 p.Asp37Gly Uncertain significance Single submitter
- TRAPPC4 p.Glu128Asp Uncertain significance Single submitter
- TRAPPC4 p.Gly165Ala Uncertain significance Single submitter
-
TRAPPC4 p.Gly87Asp
Uncertain significance
Single submitter
neurodevelopmental disorder with epilepsy, spasticity, and brain atrophy
- TRAPPC4 p.Gly99Val Uncertain significance Single submitter
- TRAPPC4 p.Ile134Thr Uncertain significance Single submitter
- TRAPPC4 p.Ile166Val Uncertain significance Single submitter
- TRAPPC4 p.Ile173Leu Uncertain significance Single submitter
- TRAPPC4 p.Ile193Val Uncertain significance Single submitter
- TRAPPC4 p.Ile3Val Uncertain significance Single submitter
- TRAPPC4 p.Leu144Phe Uncertain significance Single submitter
- TRAPPC4 p.Leu158Val Uncertain significance Single submitter
- TRAPPC4 p.Leu169Phe Uncertain significance Single submitter
-
TRAPPC4 p.Leu42Val
Uncertain significance
Single submitter
neurodevelopmental disorder with epilepsy, spasticity, and brain atrophy
-
TRAPPC4 p.Leu64Pro
Uncertain significance
Single submitter
neurodevelopmental disorder with epilepsy, spasticity, and brain atrophy
- TRAPPC4 p.Met69Ile Uncertain significance Single submitter
- TRAPPC4 p.Pro101Ser Uncertain significance Single submitter
- TRAPPC4 p.Pro127Leu Uncertain significance Single submitter
- TRAPPC4 p.Pro217Ser Uncertain significance Single submitter
-
TRAPPC4 p.Pro93Leu
Uncertain significance
Single submitter
neurodevelopmental disorder with epilepsy, spasticity, and brain atrophy
- TRAPPC4 p.Pro93Ser Uncertain significance Single submitter
- TRAPPC4 p.Ser188Thr Uncertain significance Single submitter
- TRAPPC4 p.Ser188Tyr Uncertain significance Single submitter
- TRAPPC4 p.Ser33Thr Uncertain significance Single submitter
- TRAPPC4 p.Thr76Ala Uncertain significance Single submitter
- TRAPPC4 p.Tyr187Cys Uncertain significance Single submitter
-
TRAPPC4 p.Tyr22His
Uncertain significance
Single submitter
neurodevelopmental disorder with epilepsy, spasticity, and brain atrophy
- TRAPPC4 p.Val6Met Uncertain significance Single submitter
Predictors split 8
The independent predictors disagree with each other — read with care.
- TRAPPC4 p.Arg100Leu Uncertain significance Single submitter
- TRAPPC4 p.Arg100Pro Uncertain significance Single submitter
- TRAPPC4 p.Arg162Trp Uncertain significance Single submitter
- TRAPPC4 p.Arg171Gln Uncertain significance Single submitter
- TRAPPC4 p.Asn67Asp Uncertain significance Single submitter
- TRAPPC4 p.Glu128Lys Uncertain significance Single submitter
- TRAPPC4 p.Ile166Thr Uncertain significance Single submitter
- TRAPPC4 p.Phe4Val Uncertain significance Single submitter
All TRAPPC4 variants
Pathogenic/Likely pathogenic 1
- c.454+3A>G Multiple submitters TRAPPC4-related disorder
Likely pathogenic 3
- p.Leu125Pro Single submitter neurodevelopmental disorder with epilepsy, spasticity, and brain atrophy
- p.Val8fs Single submitter neurodevelopmental disorder with epilepsy, spasticity, and brain atrophy
- p.Gly213_Ter220delinsXaa No assertion criteria neurodevelopmental disorder with epilepsy, spasticity, and brain atrophy
Benign 18
- c.176-31C>G Multiple submitters
- c.176-40C>G Multiple submitters
- c.176-43C>T Multiple submitters
- c.350+129T>C Multiple submitters
- c.350+58C>T Multiple submitters
- c.351-58C>A Multiple submitters
- c.454+225G>T Multiple submitters
- c.455-193C>T Multiple submitters
- c.582-153T>C Multiple submitters
- c.582-31A>G Multiple submitters
- c.*118G>C Multiple submitters
- c.*178A>G Multiple submitters
- p.Arg100= Multiple submitters
- p.Gly133= Multiple submitters
- p.Phe115= Multiple submitters
- c.454+176_454+178del Single submitter
- c.581+161C>G Single submitter
- c.581+163A>C Single submitter
Likely benign 5
- c.350+127C>T Single submitter
- c.582-8C>T Single submitter
- p.Leu40= Single submitter
- p.Ser21= Single submitter
- c.175+8A>G No assertion criteria TRAPPC4-related disorder
Uncertain significance 43
- c.176-3C>T Single submitter neurodevelopmental disorder with epilepsy, spasticity, and brain atrophy
- p.Ala212Ser Single submitter ⚠
- p.Ala2Ser Single submitter ⚠
- p.Ala65Val Single submitter ⚠
- p.Arg100Leu Single submitter ⚠
- p.Arg100Pro Single submitter ⚠
- p.Arg162Trp Single submitter ⚠
- p.Arg171Gln Single submitter ⚠
- p.Arg25Gln Single submitter ⚠
- p.Asn67Asp Single submitter ⚠
- p.Asp37Gly Single submitter ⚠
- p.Glu128Asp Single submitter ⚠
- p.Glu128Lys Single submitter ⚠
- p.Gly165Ala Single submitter ⚠
- p.Gly73= Single submitter
- p.Gly87Asp Single submitter neurodevelopmental disorder with epilepsy, spasticity, and brain atrophy ⚠
- p.Gly99Val Single submitter ⚠
- p.Ile134Thr Single submitter ⚠
- p.Ile166Thr Single submitter ⚠
- p.Ile166Val Single submitter ⚠
- p.Ile173Leu Single submitter ⚠
- p.Ile193Val Single submitter ⚠
- p.Ile3Val Single submitter ⚠
- p.Leu144Phe Single submitter ⚠
- p.Leu158Val Single submitter ⚠
- p.Leu169Phe Single submitter ⚠
- p.Leu42Val Single submitter neurodevelopmental disorder with epilepsy, spasticity, and brain atrophy ⚠
- p.Leu64Pro Single submitter neurodevelopmental disorder with epilepsy, spasticity, and brain atrophy ⚠
- p.Met69Ile Single submitter ⚠
- p.Phe4Val Single submitter ⚠
- p.Pro101Ser Single submitter ⚠
- p.Pro127Leu Single submitter ⚠
- p.Pro217Ser Single submitter ⚠
- p.Pro93Leu Single submitter neurodevelopmental disorder with epilepsy, spasticity, and brain atrophy ⚠
- p.Pro93Ser Single submitter ⚠
- p.Ser188Thr Single submitter ⚠
- p.Ser188Tyr Single submitter ⚠
- p.Ser33Thr Single submitter ⚠
- p.Thr151fs Single submitter
- p.Thr76Ala Single submitter ⚠
- p.Tyr187Cys Single submitter ⚠
- p.Tyr22His Single submitter neurodevelopmental disorder with epilepsy, spasticity, and brain atrophy ⚠
- p.Val6Met Single submitter ⚠