MCTS1 — 10 ClinVar variants
All ClinVar germline MCTS1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 6 flagged for review →
3 Pathogenic · 1 Benign · 1 Likely benign · 5 Uncertain significance
Full MCTS1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 6
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 4
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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MCTS1 p.Asp6Gly
Uncertain significance
Single submitter
Inborn genetic diseases
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MCTS1 p.Gly24Cys
Uncertain significance
Single submitter
Inborn genetic diseases
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MCTS1 p.Val147Asp
Uncertain significance
Single submitter
Inborn genetic diseases
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MCTS1 p.Val158Ile
Uncertain significance
Single submitter
Inborn genetic diseases
Predictors split 2
The independent predictors disagree with each other — read with care.
- MCTS1 p.Arg72Lys Benign Single submitter
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MCTS1 p.Asp48Val
Uncertain significance
Single submitter
Inborn genetic diseases
All MCTS1 variants
Pathogenic 3
- c.164+3_164+6del No assertion criteria immunodeficiency 118
- p.Arg72Ter No assertion criteria immunodeficiency 118
- p.Pro77fs No assertion criteria immunodeficiency 118
Benign 1
- p.Arg72Lys Single submitter ⚠
Likely benign 1
- p.Leu92= Single submitter
Uncertain significance 5
- p.Asp48Val Single submitter Inborn genetic diseases ⚠
- p.Asp6Gly Single submitter Inborn genetic diseases ⚠
- p.Gly24Cys Single submitter Inborn genetic diseases ⚠
- p.Val147Asp Single submitter Inborn genetic diseases ⚠
- p.Val158Ile Single submitter Inborn genetic diseases ⚠