COMT — 49 ClinVar variants
All ClinVar germline COMT variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 13 flagged for review →
1 Pathogenic · 15 Benign · 1 Benign/Likely benign · 16 Likely benign · 16 Uncertain significance
Full COMT gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 13
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 12
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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COMT p.Ala72Ser
Uncertain significance
Single submitter
22q11.2 deletion syndrome
- COMT p.Asp186Ala Uncertain significance Single submitter
- COMT p.Asp186Asn Uncertain significance Single submitter
- COMT p.Cys238Tyr Uncertain significance Single submitter
- COMT p.Glu240Gln Uncertain significance Single submitter
- COMT p.Glu252Asp Uncertain significance Single submitter
- COMT p.His192Gln Uncertain significance Single submitter
- COMT p.Leu185Met Uncertain significance Single submitter
- COMT p.Phe229Leu Uncertain significance Single submitter
- COMT p.Pro143Arg Uncertain significance Single submitter
- COMT p.Ser267Thr Uncertain significance Single submitter
- COMT p.Trp88Cys Uncertain significance Single submitter
Predictors split 1
The independent predictors disagree with each other — read with care.
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COMT p.Ala146Gly
Uncertain significance
Single submitter
panic disorder 1
All COMT variants
Pathogenic 1
- p.Trp193fs Single submitter Bardet-Biedl syndrome
Benign 15
- c.1-98A>G Multiple submitters
- c.289+90A>G Multiple submitters
- c.615+75G>C Multiple submitters
- c.616-45G>C Multiple submitters
- c.*10dup Multiple submitters
- p.Ala146= Multiple submitters
- p.Asn39= Multiple submitters
- p.Gln170= Multiple submitters
- p.Gln73= Multiple submitters
- p.His62= Multiple submitters
- p.Leu136= Multiple submitters
- p.Pro199= Multiple submitters
- p.Val158Met Multiple submitters schizophrenia
- c.289+9C>T Single submitter
- p.Leu203= Single submitter
Benign/Likely benign 1
- p.Ala102Thr Multiple submitters
Likely benign 16
- c.1-10C>T Single submitter
- c.1-13T>C Single submitter
- c.483+8T>C Single submitter
- c.616-9T>G Single submitter
- c.*578G>A Single submitter
- p.Ala10= Single submitter
- p.Ala102= Single submitter
- p.Ala134= Single submitter
- p.Ala168= Single submitter
- p.Cys238= Single submitter
- p.Ile141Val Single submitter
- p.Leu50= Single submitter
- c.1-5T>C No assertion criteria COMT-related disorder
- p.Glu252= No assertion criteria COMT-related disorder
- p.Pro69= No assertion criteria COMT-related disorder
- p.Ser267= No assertion criteria COMT-related disorder
Uncertain significance 16
- c.1-5T>A Single submitter schizophrenia
- p.Ala146Gly Single submitter panic disorder 1 ⚠
- p.Ala72Ser Single submitter 22q11.2 deletion syndrome ⚠
- p.Arg234Cys Single submitter
- p.Asp186Ala Single submitter ⚠
- p.Asp186Asn Single submitter ⚠
- p.Cys238Tyr Single submitter ⚠
- p.Glu240Gln Single submitter ⚠
- p.Glu252Asp Single submitter ⚠
- p.His192Gln Single submitter ⚠
- p.Leu185Met Single submitter ⚠
- p.Phe229Leu Single submitter ⚠
- p.Pro143Arg Single submitter ⚠
- p.Ser267Thr Single submitter ⚠
- p.Trp88Cys Single submitter ⚠
- p.Lys179Ter No assertion criteria