Sugi Variant

Sugi Variant/TRPC6

TRPC6 — 543 ClinVar variants

All ClinVar germline TRPC6 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 265 flagged for review →

6 Pathogenic · 4 Pathogenic/Likely pathogenic · 24 Likely pathogenic · 34 Conflicting · 47 Benign · 18 Benign/Likely benign · 105 Likely benign · 305 Uncertain significance

Full TRPC6 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 265

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 agree, ClinVar conflicts 21

ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.

Predictors lean, ClinVar uncertain 176

ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification. · showing the 150 best-reviewed of 176

Predictors split 66

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

All TRPC6 variants

Pathogenic 6

  • p.Arg895Cys Multiple submitters focal segmental glomerulosclerosis 2
  • p.Arg895Leu Multiple submitters TRPC6-related disorder
  • p.Pro112Gln Multiple submitters TRPC6-related disorder ⚠
  • p.Arg399Ter Single submitter focal segmental glomerulosclerosis 2
  • p.Gly109Ser Single submitter
  • p.Gly882fs Single submitter focal segmental glomerulosclerosis 2

Pathogenic/Likely pathogenic 4

  • p.Arg175Trp Multiple submitters TRPC6-related disorder
  • p.Gln869Ter Multiple submitters TRPC6-related disorder
  • p.Gln889Lys Multiple submitters focal segmental glomerulosclerosis 2 ⚠
  • p.Glu897Lys Multiple submitters Inborn genetic diseases

Likely pathogenic 24

  • p.Arg175Gln Multiple submitters focal segmental glomerulosclerosis 2 ⚠
  • c.946-1G>C Single submitter focal segmental glomerulosclerosis 2
  • p.Arg861fs Single submitter focal segmental glomerulosclerosis 2
  • p.Asn110Ser Single submitter
  • p.Asn805fs Single submitter focal segmental glomerulosclerosis 2
  • p.Asp873fs Single submitter focal segmental glomerulosclerosis 2
  • p.Cys43Ter Single submitter focal segmental glomerulosclerosis 2
  • p.Gln889fs Single submitter focal segmental glomerulosclerosis 2
  • p.Glu144Gln Single submitter focal segmental glomerulosclerosis 2
  • p.Glu881Ter Single submitter focal segmental glomerulosclerosis 2
  • p.Gly331Arg Single submitter focal segmental glomerulosclerosis 2 ⚠
  • p.Gly794fs Single submitter focal segmental glomerulosclerosis 2
  • p.Leu454fs Single submitter focal segmental glomerulosclerosis 2
  • p.Leu614fs Single submitter focal segmental glomerulosclerosis 2
  • p.Lys585fs Single submitter focal segmental glomerulosclerosis 2
  • p.Ser123Ter Single submitter focal segmental glomerulosclerosis 2
  • p.Ser364fs Single submitter focal segmental glomerulosclerosis 2
  • p.Trp514fs Single submitter focal segmental glomerulosclerosis 2
  • p.Trp586Ter Single submitter
  • p.Trp783fs Single submitter focal segmental glomerulosclerosis
  • p.Tyr866fs Single submitter focal segmental glomerulosclerosis 2
  • p.Val631fs Single submitter focal segmental glomerulosclerosis 2
  • p.Leu845Arg No assertion criteria ⚠
  • p.Val762Ile No assertion criteria ⚠

Conflicting classifications of pathogenicity 34

Benign 47

Benign/Likely benign 18

  • c.1293+6_1293+18del Multiple submitters
  • c.1294-4G>A Multiple submitters focal segmental glomerulosclerosis 2
  • c.-10C>A Multiple submitters kidney disorder
  • c.*13C>T Multiple submitters focal segmental glomerulosclerosis 2
  • c.*9C>T Multiple submitters focal segmental glomerulosclerosis 2
  • p.Ala681= Multiple submitters
  • p.Asn316= Multiple submitters focal segmental glomerulosclerosis 2
  • p.Asn696= Multiple submitters focal segmental glomerulosclerosis 2
  • p.Asp35= Multiple submitters
  • p.Asp798His Multiple submitters focal segmental glomerulosclerosis 2
  • p.Gly279= Multiple submitters focal segmental glomerulosclerosis
  • p.His145= Multiple submitters
  • p.His446= Multiple submitters focal segmental glomerulosclerosis 2
  • p.Leu332= Multiple submitters focal segmental glomerulosclerosis
  • p.Ser606= Multiple submitters focal segmental glomerulosclerosis 2
  • p.Thr296= Multiple submitters focal segmental glomerulosclerosis 2
  • p.Thr714= Multiple submitters focal segmental glomerulosclerosis 2
  • p.Tyr705= Multiple submitters focal segmental glomerulosclerosis

Likely benign 105

Uncertain significance 305

Showing the top 300 by review status; the full set is in the sitemap.