Sugi Variant

Sugi Variant/SHOC2

SHOC2 — 695 ClinVar variants

All ClinVar germline SHOC2 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 314 flagged for review →

3 Pathogenic · 3 Likely pathogenic · 28 Conflicting · 31 Benign · 15 Benign/Likely benign · 269 Likely benign · 346 Uncertain significance

Full SHOC2 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 314

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 13

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

Predictors lean, ClinVar uncertain 214

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 214

Predictors split 85

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

All SHOC2 variants

Pathogenic 3

Likely pathogenic 3

  • p.Gly53Arg Single submitter Noonan syndrome-like disorder with loose anagen hair 1
  • p.Ser2Ile Single submitter ⚠
  • p.Leu174Phe No assertion criteria Noonan syndrome

Conflicting classifications of pathogenicity 28

Benign 31

Benign/Likely benign 15

  • c.1161+9A>G Multiple submitters Noonan syndrome and Noonan-related syndrome
  • c.1162-16T>G Multiple submitters RASopathy
  • c.1541-7del Multiple submitters Noonan syndrome-like disorder with loose anagen hair 1
  • c.1541-7dup Multiple submitters Noonan syndrome and Noonan-related syndrome
  • c.703+15ATT[3] Multiple submitters RASopathy
  • c.704-16G>T Multiple submitters RASopathy
  • c.841+12G>A Multiple submitters RASopathy
  • c.973-5del Multiple submitters Noonan syndrome and Noonan-related syndrome
  • c.973-5dup Multiple submitters RASopathy
  • c.-179T>A Multiple submitters Noonan syndrome-like disorder with loose anagen hair 1
  • c.*16C>A Multiple submitters Noonan syndrome-like disorder with loose anagen hair 1
  • c.*3T>C Multiple submitters Noonan syndrome and Noonan-related syndrome
  • p.Arg366= Multiple submitters Cardiovascular phenotype
  • p.Asn101= Multiple submitters Cardiovascular phenotype
  • p.Gln413His Multiple submitters RASopathy

Likely benign 269

Uncertain significance 346

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