CTRL — 53 ClinVar variants
All ClinVar germline CTRL variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 47 flagged for review →
1 Conflicting · 4 Benign · 4 Likely benign · 44 Uncertain significance
Full CTRL gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 47
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 agree, ClinVar conflicts 1
ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.
Predictors lean, ClinVar uncertain 22
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- CTRL p.Gly230Ser Uncertain significance Multiple submitters
- CTRL p.Ala27Thr Uncertain significance Single submitter
- CTRL p.Arg136His Uncertain significance Single submitter
- CTRL p.Arg249Pro Uncertain significance Single submitter
- CTRL p.Asn114Ser Uncertain significance Single submitter
- CTRL p.Asn36Lys Uncertain significance Single submitter
- CTRL p.Asp213Asn Uncertain significance Single submitter
- CTRL p.Cys201Tyr Uncertain significance Single submitter
- CTRL p.Cys220Gly Uncertain significance Single submitter
- CTRL p.Glu89Lys Uncertain significance Single submitter
- CTRL p.Gly14Ser Uncertain significance Single submitter
- CTRL p.Gly159Ser Uncertain significance Single submitter
- CTRL p.Gly37Glu Uncertain significance Single submitter
- CTRL p.Gly43Ala Uncertain significance Single submitter
- CTRL p.His58Arg Uncertain significance Single submitter
- CTRL p.Lys126Thr Uncertain significance Single submitter
- CTRL p.Lys222Arg Uncertain significance Single submitter
- CTRL p.Ser112Asn Uncertain significance Single submitter
- CTRL p.Ser233Pro Uncertain significance Single submitter
- CTRL p.Thr154Met Uncertain significance Single submitter
- CTRL p.Val241Leu Uncertain significance Single submitter
- CTRL p.Val41Ala Uncertain significance Single submitter
Predictors split 24
The independent predictors disagree with each other — read with care.
- CTRL p.Ala131Thr Uncertain significance Single submitter
- CTRL p.Arg162His Uncertain significance Single submitter
- CTRL p.Arg188Gln Likely benign Single submitter
- CTRL p.Arg188Trp Uncertain significance Single submitter
- CTRL p.Arg242Cys Uncertain significance Single submitter
- CTRL p.Arg242His Uncertain significance Single submitter
- CTRL p.Arg82Cys Uncertain significance Single submitter
- CTRL p.Arg82His Uncertain significance Single submitter
- CTRL p.Asn146Lys Uncertain significance Single submitter
- CTRL p.Asp197Gly Uncertain significance Single submitter
- CTRL p.Gln189Leu Uncertain significance Single submitter
- CTRL p.Gly20Ser Benign Single submitter
- CTRL p.Ile34Val Uncertain significance Single submitter
- CTRL p.Pro98Thr Uncertain significance Single submitter
- CTRL p.Ser129Trp Uncertain significance Single submitter
- CTRL p.Ser138Leu Uncertain significance Single submitter
- CTRL p.Ser15Tyr Uncertain significance Single submitter
- CTRL p.Ser68Ala Uncertain significance Single submitter
- CTRL p.Ser68Tyr Uncertain significance Single submitter
- CTRL p.Ser94Leu Uncertain significance Single submitter
- CTRL p.Ser94Pro Uncertain significance Single submitter
- CTRL p.Thr123Met Uncertain significance Single submitter
- CTRL p.Val104Leu Uncertain significance Single submitter
- CTRL p.Val122Met Uncertain significance Single submitter
All CTRL variants
Conflicting classifications of pathogenicity 1
- p.Gln48His Single submitter ⚠
Benign 4
- p.Glu151Gln Multiple submitters
- p.Val70= Multiple submitters
- p.Gly20Ser Single submitter ⚠
- p.His75Tyr Single submitter
Likely benign 4
- p.Arg188Gln Single submitter ⚠
- p.Asn36= Single submitter
- p.Leu42Ser Single submitter
- p.Ala73Thr No assertion criteria long QT syndrome
Uncertain significance 44
- p.Gly230Ser Multiple submitters ⚠
- p.Ala131Thr Single submitter ⚠
- p.Ala27Thr Single submitter ⚠
- p.Arg136His Single submitter ⚠
- p.Arg162His Single submitter ⚠
- p.Arg188Trp Single submitter ⚠
- p.Arg242Cys Single submitter ⚠
- p.Arg242His Single submitter ⚠
- p.Arg249Pro Single submitter ⚠
- p.Arg82Cys Single submitter ⚠
- p.Arg82His Single submitter ⚠
- p.Asn114Ser Single submitter ⚠
- p.Asn146Lys Single submitter ⚠
- p.Asn36Lys Single submitter ⚠
- p.Asp197Gly Single submitter ⚠
- p.Asp213Asn Single submitter ⚠
- p.Cys201Tyr Single submitter ⚠
- p.Cys220Gly Single submitter ⚠
- p.Gln189Leu Single submitter ⚠
- p.Glu89Lys Single submitter ⚠
- p.Gly14Ser Single submitter ⚠
- p.Gly159Ser Single submitter ⚠
- p.Gly37Glu Single submitter ⚠
- p.Gly43Ala Single submitter ⚠
- p.His58Arg Single submitter ⚠
- p.Ile34Val Single submitter ⚠
- p.Lys126Thr Single submitter ⚠
- p.Lys222Arg Single submitter ⚠
- p.Pro98Thr Single submitter ⚠
- p.Ser112Asn Single submitter ⚠
- p.Ser129Trp Single submitter ⚠
- p.Ser138Leu Single submitter ⚠
- p.Ser15Tyr Single submitter ⚠
- p.Ser233Pro Single submitter ⚠
- p.Ser68Ala Single submitter ⚠
- p.Ser68Tyr Single submitter ⚠
- p.Ser94Leu Single submitter ⚠
- p.Ser94Pro Single submitter ⚠
- p.Thr123Met Single submitter ⚠
- p.Thr154Met Single submitter ⚠
- p.Val104Leu Single submitter ⚠
- p.Val122Met Single submitter ⚠
- p.Val241Leu Single submitter ⚠
- p.Val41Ala Single submitter ⚠