TOMM70 — 15 ClinVar variants
All ClinVar germline TOMM70 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 7 flagged for review →
2 Benign · 1 Likely benign · 12 Uncertain significance
Full TOMM70 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 7
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 5
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
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TOMM70 p.Ala361Gly
Uncertain significance
Single submitter
Inborn genetic diseases
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TOMM70 p.Leu77Arg
Uncertain significance
Single submitter
Inborn genetic diseases
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TOMM70 p.Ser456Leu
Uncertain significance
Single submitter
Inborn genetic diseases
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TOMM70 p.Thr451Met
Uncertain significance
Single submitter
Inborn genetic diseases
- TOMM70 p.Thr265Met Uncertain significance No assertion criteria
Predictors split 2
The independent predictors disagree with each other — read with care.
All TOMM70 variants
Likely benign 1
- p.Ile538Val Single submitter
Uncertain significance 12
- p.Ala361Gly Single submitter Inborn genetic diseases ⚠
- p.Gln165Ter Single submitter TOMM70-related neurodevelopmental disorder
- p.Gln491Ter Single submitter
- p.Leu77Arg Single submitter Inborn genetic diseases ⚠
- p.Phe492fs Single submitter
- p.Pro398Leu Single submitter Inborn genetic diseases ⚠
- p.Ser456Leu Single submitter Inborn genetic diseases ⚠
- p.Thr451Met Single submitter Inborn genetic diseases ⚠
- p.Thr595Arg Single submitter Inborn genetic diseases
- p.Thr607Ile Single submitter TOMM70-related neurodevelopmental disorder
- p.Ala582Val No assertion criteria ⚠
- p.Thr265Met No assertion criteria ⚠