TTC5 — 50 ClinVar variants
All ClinVar germline TTC5 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 30 flagged for review →
5 Pathogenic · 3 Likely pathogenic · 1 Conflicting · 5 Likely benign · 36 Uncertain significance
Full TTC5 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 30
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 26
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- TTC5 p.Thr232Met Uncertain significance Multiple submitters
- TTC5 p.Ala120Gly Uncertain significance Single submitter
- TTC5 p.Ala168Thr Uncertain significance Single submitter
- TTC5 p.Ala429Gly Uncertain significance Single submitter
- TTC5 p.Arg180Cys Uncertain significance Single submitter
- TTC5 p.Arg180His Uncertain significance Single submitter
- TTC5 p.Asp361Glu Uncertain significance Single submitter
- TTC5 p.Asp45Ala Uncertain significance Single submitter
- TTC5 p.Gln140Lys Uncertain significance Single submitter
- TTC5 p.Gln397Arg Uncertain significance Single submitter
- TTC5 p.His157Arg Uncertain significance Single submitter
- TTC5 p.Leu393Phe Uncertain significance Single submitter
-
TTC5 p.Lys115Gln
Uncertain significance
Single submitter
neurodevelopmental disorder with cerebral atrophy and variable facial dysmorphism
- TTC5 p.Lys421Arg Uncertain significance Single submitter
- TTC5 p.Lys87Met Uncertain significance Single submitter
- TTC5 p.Met144Val Uncertain significance Single submitter
-
TTC5 p.Pro11Leu
Uncertain significance
Single submitter
neurodevelopmental disorder with cerebral atrophy and variable facial dysmorphism
- TTC5 p.Ser127Leu Uncertain significance Single submitter
- TTC5 p.Ser181Phe Uncertain significance Single submitter
- TTC5 p.Ser188Leu Uncertain significance Single submitter
- TTC5 p.Ser25Ala Uncertain significance Single submitter
- TTC5 p.Ser435Leu Uncertain significance Single submitter
- TTC5 p.Ser85Arg Uncertain significance Single submitter
- TTC5 p.Thr432Ala Uncertain significance Single submitter
- TTC5 p.Tyr113Ser Uncertain significance Single submitter
- TTC5 p.Tyr365Ser Uncertain significance Single submitter
Predictors split 4
The independent predictors disagree with each other — read with care.
All TTC5 variants
Pathogenic 5
- p.Arg166Ter Single submitter
- c.51+1G>A No assertion criteria neurodevelopmental disorder with cerebral atrophy and variable facial dysmorphism
- p.Ala231Val No assertion criteria neurodevelopmental disorder with cerebral atrophy and variable facial dysmorphism
- p.Pro200fs No assertion criteria neurodevelopmental disorder with cerebral atrophy and variable facial dysmorphism
- p.Tyr210Cys No assertion criteria neurodevelopmental disorder with cerebral atrophy and variable facial dysmorphism
Likely pathogenic 3
- p.Arg27Ter Multiple submitters neurodevelopmental disorder with cerebral atrophy and variable facial dysmorphism
- p.Ala211fs Single submitter neurodevelopmental disorder with cerebral atrophy and variable facial dysmorphism
- p.Pro82_Asp83insTer Single submitter TTC5-related disorder
Conflicting classifications of pathogenicity 1
- p.Arg409Ter Single submitter neurodevelopmental disorder with cerebral atrophy and variable facial dysmorphism
Likely benign 5
- c.547+18A>T Single submitter
- p.Arg395Gln Single submitter
- p.Gln204= Single submitter
- p.Thr196= Single submitter
- p.Val64= Single submitter
Uncertain significance 36
- p.Thr232Met Multiple submitters ⚠
- c.640-3T>G Single submitter
- p.Ala120Gly Single submitter ⚠
- p.Ala168Thr Single submitter ⚠
- p.Ala429Gly Single submitter ⚠
- p.Arg150Trp Single submitter ⚠
- p.Arg180Cys Single submitter ⚠
- p.Arg180His Single submitter ⚠
- p.Arg395Ter Single submitter Neurodevelopmental delay
- p.Asp361Glu Single submitter ⚠
- p.Asp45Ala Single submitter ⚠
- p.Gln140Lys Single submitter ⚠
- p.Gln140Ter Single submitter neurodevelopmental disorder with cerebral atrophy and variable facial dysmorphism
- p.Gln148Ter Single submitter neurodevelopmental disorder with cerebral atrophy and variable facial dysmorphism
- p.Gln198Arg Single submitter
- p.Gln397Arg Single submitter ⚠
- p.Gln47Trp Single submitter neurodevelopmental disorder with cerebral atrophy and variable facial dysmorphism
- p.His157Arg Single submitter ⚠
- p.Leu207Arg Single submitter ⚠
- p.Leu393Phe Single submitter ⚠
- p.Lys115Gln Single submitter neurodevelopmental disorder with cerebral atrophy and variable facial dysmorphism ⚠
- p.Lys421Arg Single submitter ⚠
- p.Lys87Met Single submitter ⚠
- p.Met144Val Single submitter ⚠
- p.Met368Ile Single submitter ⚠
- p.Pro11Leu Single submitter neurodevelopmental disorder with cerebral atrophy and variable facial dysmorphism ⚠
- p.Ser127Leu Single submitter ⚠
- p.Ser181Phe Single submitter ⚠
- p.Ser188Leu Single submitter ⚠
- p.Ser25Ala Single submitter ⚠
- p.Ser435Leu Single submitter ⚠
- p.Ser85Arg Single submitter ⚠
- p.Thr412Met Single submitter ⚠
- p.Thr432Ala Single submitter ⚠
- p.Tyr113Ser Single submitter ⚠
- p.Tyr365Ser Single submitter ⚠