EMG1 — 27 ClinVar variants
All ClinVar germline EMG1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 8 flagged for review →
1 Pathogenic · 6 Benign · 1 Benign/Likely benign · 11 Likely benign · 8 Uncertain significance
Full EMG1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 8
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 6
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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EMG1 p.Ala19Gly
Uncertain significance
Single submitter
Inborn genetic diseases
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EMG1 p.Gln139Arg
Uncertain significance
Single submitter
Inborn genetic diseases
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EMG1 p.Gln20Arg
Uncertain significance
Single submitter
Inborn genetic diseases
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EMG1 p.Pro10Ser
Uncertain significance
Single submitter
Inborn genetic diseases
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EMG1 p.Pro181Ser
Uncertain significance
Single submitter
Inborn genetic diseases
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EMG1 p.Pro223Arg
Uncertain significance
Single submitter
Inborn genetic diseases
Predictors split 2
The independent predictors disagree with each other — read with care.
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EMG1 p.Arg41Cys
Likely benign
Single submitter
Inborn genetic diseases
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EMG1 p.Gly81Trp
Uncertain significance
Single submitter
Inborn genetic diseases
All EMG1 variants
Pathogenic 1
- p.Asp86Gly No assertion criteria Bowen-Conradi syndrome
Benign 6
Benign/Likely benign 1
- p.Arg13Leu Multiple submitters
Likely benign 11
- c.413-7C>T Single submitter
- p.Ala83= Single submitter
- p.Arg41Cys Single submitter Inborn genetic diseases ⚠
- p.Arg42= Single submitter
- p.Asp86= Single submitter
- p.Ile180= Single submitter EMG1-related disorder
- p.Pro195= Single submitter
- p.Thr129= Single submitter
- p.Thr234= Single submitter
- c.*8A>C No assertion criteria EMG1-related disorder
- p.Ser14Arg No assertion criteria EMG1-related disorder
Uncertain significance 8
- p.Ala19Gly Single submitter Inborn genetic diseases ⚠
- p.Gln139Arg Single submitter Inborn genetic diseases ⚠
- p.Gln20Arg Single submitter Inborn genetic diseases ⚠
- p.Gly81Trp Single submitter Inborn genetic diseases ⚠
- p.Pro10Ser Single submitter Inborn genetic diseases ⚠
- p.Pro181Ser Single submitter Inborn genetic diseases ⚠
- p.Pro223Arg Single submitter Inborn genetic diseases ⚠
- p.Thr88Ile Single submitter Inborn genetic diseases