Sugi Variant

Sugi Variant/HSPB3

HSPB3 — 76 ClinVar variants

All ClinVar germline HSPB3 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 40 flagged for review →

7 Conflicting · 3 Benign · 2 Benign/Likely benign · 15 Likely benign · 49 Uncertain significance

Full HSPB3 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 40

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 2

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

Predictors lean, ClinVar uncertain 28

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

Predictors split 10

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

All HSPB3 variants

Conflicting classifications of pathogenicity 7

  • p.Arg116Pro Single submitter neuronopathy, distal hereditary motor, type 2C ⚠
  • p.Arg15Cys Single submitter neuronopathy, distal hereditary motor, type 2C ⚠
  • p.Arg7Ser Single submitter neuronopathy, distal hereditary motor, type 2C ⚠
  • p.Glu91Lys Single submitter neuronopathy, distal hereditary motor, type 2C ⚠
  • p.Leu34fs Single submitter neuronopathy, distal hereditary motor, type 2C
  • p.Trp93Ter Single submitter Charcot-Marie-Tooth disease type 2
  • p.Val77Met Single submitter neuronopathy, distal hereditary motor, type 2C ⚠

Benign 3

  • p.Gly123= Multiple submitters neuronopathy, distal hereditary motor, type 2C
  • p.Gly67Ser Multiple submitters neuronopathy, distal hereditary motor, type 2C
  • p.Leu94= Multiple submitters neuronopathy, distal hereditary motor, type 2C

Benign/Likely benign 2

  • p.Arg116Gln Multiple submitters neuronopathy, distal hereditary motor, type 2C ⚠
  • p.Lys119Glu Multiple submitters neuronopathy, distal hereditary motor, type 2C

Likely benign 15

  • p.His107= Multiple submitters neuronopathy, distal hereditary motor, type 2C
  • p.Phe80= Multiple submitters neuronopathy, distal hereditary motor, type 2C
  • c.-17C>A Single submitter neuronopathy, distal hereditary motor, type 2C
  • p.Ala51= Single submitter neuronopathy, distal hereditary motor, type 2C
  • p.Ala59= Single submitter neuronopathy, distal hereditary motor, type 2C
  • p.Glu61= Single submitter neuronopathy, distal hereditary motor, type 2C
  • p.His100= Single submitter neuronopathy, distal hereditary motor, type 2C
  • p.Ile87= Single submitter neuronopathy, distal hereditary motor, type 2C
  • p.Leu30= Single submitter neuronopathy, distal hereditary motor, type 2C
  • p.Phe90= Single submitter
  • p.Pro63= Single submitter
  • p.Thr115= Single submitter neuronopathy, distal hereditary motor, type 2C
  • p.Thr48= Single submitter neuronopathy, distal hereditary motor, type 2C
  • p.Val140= Single submitter neuronopathy, distal hereditary motor, type 2C
  • p.Val147Ala Single submitter

Uncertain significance 49

  • p.Arg23Gln Multiple submitters neuronopathy, distal hereditary motor, type 2C ⚠
  • p.Arg23Ter Multiple submitters neuronopathy, distal hereditary motor, type 2C
  • p.Glu106Lys Multiple submitters neuronopathy, distal hereditary motor, type 2C ⚠
  • p.Leu75Gln Multiple submitters neuronopathy, distal hereditary motor, type 2C ⚠
  • p.Pro146Leu Multiple submitters neuronopathy, distal hereditary motor, type 2C ⚠
  • c.-67C>T Single submitter neuronopathy, distal hereditary motor, type 2C
  • c.-89T>C Single submitter neuronopathy, distal hereditary motor, type 2C
  • c.*10G>A Single submitter neuronopathy, distal hereditary motor, type 2C
  • c.*11G>T Single submitter neuronopathy, distal hereditary motor, type 2C
  • c.*16T>G Single submitter neuronopathy, distal hereditary motor, type 2C
  • c.*6dup Single submitter
  • c.*79C>T Single submitter neuronopathy, distal hereditary motor, type 2C
  • p.Ala36Ser Single submitter ⚠
  • p.Ala59Val Single submitter neuronopathy, distal hereditary motor, type 2C ⚠
  • p.Arg116Ter Single submitter neuronopathy, distal hereditary motor, type 2C
  • p.Arg15His Single submitter neuronopathy, distal hereditary motor, type 2C ⚠
  • p.Arg15Leu Single submitter neuronopathy, distal hereditary motor, type 2C ⚠
  • p.Arg65Gln Single submitter neuronopathy, distal hereditary motor, type 2C ⚠
  • p.Asp136= Single submitter neuronopathy, distal hereditary motor, type 2C
  • p.Asp136Glu Single submitter neuronopathy, distal hereditary motor, type 2C ⚠
  • p.Asp27Gly Single submitter ⚠
  • p.Asp31Gly Single submitter neuronopathy, distal hereditary motor, type 2C
  • p.Asp57= Single submitter neuronopathy, distal hereditary motor, type 2C
  • p.Asp57Val Single submitter ⚠
  • p.Asp76Val Single submitter neuronopathy, distal hereditary motor, type 2C ⚠
  • p.Gln52Arg Single submitter neuronopathy, distal hereditary motor, type 2C ⚠
  • p.Glu83fs Single submitter neuronopathy, distal hereditary motor, type 2C
  • p.Gly108Ser Single submitter neuronopathy, distal hereditary motor, type 2C ⚠
  • p.Gly92Asp Single submitter neuronopathy, distal hereditary motor, type 2C ⚠
  • p.His70Arg Single submitter neuronopathy, distal hereditary motor, type 2C ⚠
  • p.Ile42Met Single submitter neuronopathy, distal hereditary motor, type 2C ⚠
  • p.Ile42Thr Single submitter neuronopathy, distal hereditary motor, type 2C ⚠
  • p.Ile73Met Single submitter ⚠
  • p.Ile85Val Single submitter ⚠
  • p.Leu9Phe Single submitter neuronopathy, distal hereditary motor, type 2C ⚠
  • p.Met1Thr Single submitter neuronopathy, distal hereditary motor, type 2C
  • p.Met1Val Single submitter
  • p.Pro13Ser Single submitter neuronopathy, distal hereditary motor, type 2C ⚠
  • p.Pro55Leu Single submitter ⚠
  • p.Pro64Leu Single submitter neuronopathy, distal hereditary motor, type 2C ⚠
  • p.Pro82Ala Single submitter neuronopathy, distal hereditary motor, type 2C ⚠
  • p.Ser130Phe Single submitter ⚠
  • p.Ser53Tyr Single submitter neuronopathy, distal hereditary motor, type 2C ⚠
  • p.Thr102Asn Single submitter ⚠
  • p.Thr62Met Single submitter neuronopathy, distal hereditary motor, type 2C ⚠
  • p.Val141Met Single submitter neuronopathy, distal hereditary motor, type 2C ⚠
  • p.Val147Phe Single submitter ⚠
  • p.Val43Met Single submitter neuronopathy, distal hereditary motor, type 2C ⚠
  • p.Val77Leu Single submitter neuronopathy, distal hereditary motor, type 2C ⚠