Sugi Variant

Sugi Variant/VKORC1

VKORC1 — 47 ClinVar variants

All ClinVar germline VKORC1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 12 flagged for review →

3 Pathogenic · 1 Pathogenic/Likely pathogenic · 1 Likely pathogenic · 2 Conflicting · 5 Benign · 1 Benign/Likely benign · 9 Likely benign · 25 Uncertain significance

Full VKORC1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 12

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 vs ClinVar 2

ClinVar calls these pathogenic, but the computational predictors lean tolerated — the highest-value review flag.

Predictors lean, ClinVar uncertain 5

ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.

Predictors split 5

The independent predictors disagree with each other — read with care.

All VKORC1 variants

Pathogenic 3

Pathogenic/Likely pathogenic 1

  • p.Arg98Trp Multiple submitters congenital vitamin K-dependent coagulation factors deficiency ⚠

Likely pathogenic 1

Conflicting classifications of pathogenicity 2

  • c.173+11G>T Single submitter vitamin K-dependent clotting factors, combined deficiency of, type 2
  • p.Val66Met Single submitter vitamin K-dependent clotting factors, combined deficiency of, type 2

Benign 5

  • p.Leu120= Multiple submitters vitamin K-dependent clotting factors, combined deficiency of, type 2
  • c.173+525C>T Single submitter
  • c.283+837= Single submitter
  • p.His68Arg Single submitter vitamin K-dependent clotting factors, combined deficiency of, type 2
  • c.283+448A>G No assertion criteria VKORC1-related disorder

Benign/Likely benign 1

  • p.Cys43= Multiple submitters vitamin K-dependent clotting factors, combined deficiency of, type 2

Likely benign 9

Uncertain significance 25

  • p.His68Tyr Multiple submitters vitamin K-dependent clotting factors, combined deficiency of, type 2 ⚠
  • p.Tyr39= Multiple submitters vitamin K-dependent clotting factors, combined deficiency of, type 2
  • c.174-10C>G Single submitter
  • c.283+460C>T Single submitter VKORC1-related disorder
  • c.-2T>C Single submitter vitamin K-dependent clotting factors, combined deficiency of, type 2
  • c.-45G>A Single submitter vitamin K-dependent clotting factors, combined deficiency of, type 2
  • c.*10C>G Single submitter vitamin K-dependent clotting factors, combined deficiency of, type 2
  • c.*172T>A Single submitter vitamin K-dependent clotting factors, combined deficiency of, type 2
  • c.*245G>A Single submitter vitamin K-dependent clotting factors, combined deficiency of, type 2
  • p.Ala14Thr Single submitter ⚠
  • p.Arg12= Single submitter VKORC1-related disorder
  • p.Arg35Gly Single submitter ⚠
  • p.Arg61Lys Single submitter ⚠
  • p.Asn77Ser Single submitter vitamin K-dependent clotting factors, combined deficiency of, type 2 ⚠
  • p.Asp38His Single submitter ⚠
  • p.Ile49Met Single submitter ⚠
  • p.Leu114= Single submitter vitamin K-dependent clotting factors, combined deficiency of, type 2
  • p.Leu22Phe Single submitter ⚠
  • p.Met1Ile Single submitter
  • p.Ser149= Single submitter vitamin K-dependent clotting factors, combined deficiency of, type 2
  • p.Thr18= Single submitter vitamin K-dependent clotting factors, combined deficiency of, type 2
  • p.Thr89= Single submitter vitamin K-dependent clotting factors, combined deficiency of, type 2
  • p.Trp147Arg Single submitter
  • p.Trp5Ser Single submitter ⚠
  • p.Val127Met Single submitter vitamin K-dependent clotting factors, combined deficiency of, type 2 ⚠