COMTD1 — 42 ClinVar variants
All ClinVar germline COMTD1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 41 flagged for review →
1 Likely benign · 41 Uncertain significance
Full COMTD1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 41
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 15
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- COMTD1 p.Ala91Gly Uncertain significance Single submitter
- COMTD1 p.Arg212Lys Uncertain significance Single submitter
- COMTD1 p.Arg238Ser Uncertain significance Single submitter
- COMTD1 p.Arg41Pro Uncertain significance Single submitter
- COMTD1 p.Arg61Gly Uncertain significance Single submitter
- COMTD1 p.Arg61His Uncertain significance Single submitter
- COMTD1 p.Gly110Val Uncertain significance Single submitter
- COMTD1 p.Leu100Val Uncertain significance Single submitter
- COMTD1 p.Leu109Pro Uncertain significance Single submitter
- COMTD1 p.Leu124Gln Uncertain significance Single submitter
- COMTD1 p.Leu93Phe Uncertain significance Single submitter
- COMTD1 p.Lys224Gln Uncertain significance Single submitter
- COMTD1 p.Met63Leu Uncertain significance Single submitter
- COMTD1 p.Pro36Ala Uncertain significance Single submitter
- COMTD1 p.Pro4Leu Uncertain significance Single submitter
Predictors split 26
The independent predictors disagree with each other — read with care.
- COMTD1 p.Ala126Thr Uncertain significance Single submitter
- COMTD1 p.Ala126Val Uncertain significance Single submitter
- COMTD1 p.Ala186Thr Uncertain significance Single submitter
- COMTD1 p.Arg129Leu Uncertain significance Single submitter
- COMTD1 p.Arg129Pro Uncertain significance Single submitter
- COMTD1 p.Arg144Trp Uncertain significance Single submitter
- COMTD1 p.Arg241Trp Uncertain significance Single submitter
- COMTD1 p.Arg41Gln Uncertain significance Single submitter
- COMTD1 p.Arg41Trp Uncertain significance Single submitter
- COMTD1 p.Asp108Asn Uncertain significance Single submitter
- COMTD1 p.Glu169Asp Uncertain significance Single submitter
- COMTD1 p.Glu189Lys Uncertain significance Single submitter
- COMTD1 p.Gly177Ser Uncertain significance Single submitter
- COMTD1 p.Gly205Glu Uncertain significance Single submitter
- COMTD1 p.Gly22Ser Uncertain significance Single submitter
- COMTD1 p.Leu160Met Uncertain significance Single submitter
- COMTD1 p.Leu208Phe Uncertain significance Single submitter
- COMTD1 p.Leu29His Uncertain significance Single submitter
- COMTD1 p.Met85Val Uncertain significance Single submitter
- COMTD1 p.Pro162His Uncertain significance Single submitter
- COMTD1 p.Pro48Thr Uncertain significance Single submitter
- COMTD1 p.Pro49Ser Uncertain significance Single submitter
- COMTD1 p.Pro4Thr Uncertain significance Single submitter
- COMTD1 p.Thr113Ala Uncertain significance Single submitter
- COMTD1 p.Trp215Cys Uncertain significance Single submitter
- COMTD1 p.Val10Met Uncertain significance Single submitter
All COMTD1 variants
Likely benign 1
- p.Ala228Glu Single submitter
Uncertain significance 41
- p.Ala126Thr Single submitter ⚠
- p.Ala126Val Single submitter ⚠
- p.Ala186Thr Single submitter ⚠
- p.Ala91Gly Single submitter ⚠
- p.Arg129Leu Single submitter ⚠
- p.Arg129Pro Single submitter ⚠
- p.Arg144Trp Single submitter ⚠
- p.Arg212Lys Single submitter ⚠
- p.Arg238Ser Single submitter ⚠
- p.Arg241Trp Single submitter ⚠
- p.Arg41Gln Single submitter ⚠
- p.Arg41Pro Single submitter ⚠
- p.Arg41Trp Single submitter ⚠
- p.Arg61Gly Single submitter ⚠
- p.Arg61His Single submitter ⚠
- p.Asp108Asn Single submitter ⚠
- p.Glu169Asp Single submitter ⚠
- p.Glu189Lys Single submitter ⚠
- p.Gly110Val Single submitter ⚠
- p.Gly177Ser Single submitter ⚠
- p.Gly205Glu Single submitter ⚠
- p.Gly22Ser Single submitter ⚠
- p.Leu100Val Single submitter ⚠
- p.Leu109Pro Single submitter ⚠
- p.Leu124Gln Single submitter ⚠
- p.Leu160Met Single submitter ⚠
- p.Leu208Phe Single submitter ⚠
- p.Leu29His Single submitter ⚠
- p.Leu93Phe Single submitter ⚠
- p.Lys224Gln Single submitter ⚠
- p.Met63Leu Single submitter ⚠
- p.Met85Val Single submitter ⚠
- p.Pro162His Single submitter ⚠
- p.Pro36Ala Single submitter ⚠
- p.Pro48Thr Single submitter ⚠
- p.Pro49Ser Single submitter ⚠
- p.Pro4Leu Single submitter ⚠
- p.Pro4Thr Single submitter ⚠
- p.Thr113Ala Single submitter ⚠
- p.Trp215Cys Single submitter ⚠
- p.Val10Met Single submitter ⚠