TFEB — 25 ClinVar variants
All ClinVar germline TFEB variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 23 flagged for review →
1 Benign · 1 Likely benign · 23 Uncertain significance
Full TFEB gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 23
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 18
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- TFEB p.Ala111Thr Uncertain significance Single submitter
- TFEB p.Ala265Thr Uncertain significance Single submitter
- TFEB p.Arg234Gln Uncertain significance Single submitter
- TFEB p.Arg465Gln Uncertain significance Single submitter
- TFEB p.Arg8Pro Uncertain significance Single submitter
- TFEB p.Asn182Asp Uncertain significance Single submitter
- TFEB p.Asp197Glu Uncertain significance Single submitter
- TFEB p.Gly335Ser Uncertain significance Single submitter
- TFEB p.His129Arg Uncertain significance Single submitter
- TFEB p.His301Asn Uncertain significance Single submitter
- TFEB p.Leu372Met Uncertain significance Single submitter
- TFEB p.Met34Leu Uncertain significance Single submitter
- TFEB p.Pro380Leu Uncertain significance Single submitter
- TFEB p.Pro388Leu Uncertain significance Single submitter
- TFEB p.Pro388Ser Uncertain significance Single submitter
- TFEB p.Pro51Ser Uncertain significance Single submitter
- TFEB p.Thr55Ser Uncertain significance Single submitter
- TFEB p.Val270Met Uncertain significance Single submitter
Predictors split 5
The independent predictors disagree with each other — read with care.
All TFEB variants
Benign 1
- p.Pro56= Single submitter
Likely benign 1
- p.Met336Val Single submitter
Uncertain significance 23
- p.Ala111Thr Single submitter ⚠
- p.Ala265Thr Single submitter ⚠
- p.Arg220Pro Single submitter ⚠
- p.Arg234Gln Single submitter ⚠
- p.Arg303His Single submitter ⚠
- p.Arg465Gln Single submitter ⚠
- p.Arg8Pro Single submitter ⚠
- p.Asn182Asp Single submitter ⚠
- p.Asn54Lys Single submitter ⚠
- p.Asp197Glu Single submitter ⚠
- p.Gly335Ser Single submitter ⚠
- p.His129Arg Single submitter ⚠
- p.His301Asn Single submitter ⚠
- p.Leu372Met Single submitter ⚠
- p.Met34Leu Single submitter ⚠
- p.Pro140Leu Single submitter ⚠
- p.Pro380Leu Single submitter ⚠
- p.Pro388Leu Single submitter ⚠
- p.Pro388Ser Single submitter ⚠
- p.Pro456Leu Single submitter ⚠
- p.Pro51Ser Single submitter ⚠
- p.Thr55Ser Single submitter ⚠
- p.Val270Met Single submitter ⚠