Sugi Variant

Sugi Variant/SHANK1

SHANK1 — 661 ClinVar variants

All ClinVar germline SHANK1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 439 flagged for review →

10 Pathogenic · 2 Pathogenic/Likely pathogenic · 9 Likely pathogenic · 4 Conflicting · 21 Benign · 8 Benign/Likely benign · 156 Likely benign · 451 Uncertain significance

Full SHANK1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 439

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 3

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

Predicted LoF vs a conflicting call 1

ClinVar submitters conflict, and it's a predicted loss-of-function change in a gene where LoF causes disease — flagged for review, not resolved (verify NMD-escape for C-terminal truncations). Non-missense.

Predictors lean, ClinVar uncertain 330

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 330

Predictors split 105

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

All SHANK1 variants

Pathogenic 10

Pathogenic/Likely pathogenic 2

  • p.Arg1048Ter Multiple submitters SHANK1-associated disorder
  • p.Arg717Ter Multiple submitters SHANK1-related Neurodevelopmental Disorder

Likely pathogenic 9

  • p.Ala1714fs Single submitter Paediatric disorders
  • p.Arg245Trp Single submitter SHANK1-related autism
  • p.Asp1903fs Single submitter intellectual disability
  • p.Glu1572Ter Single submitter intellectual disability
  • p.Lys628fs Single submitter intellectual disability
  • p.Ser1639fs Single submitter SHANK1-related disorder
  • p.Thr1451fs Single submitter neurodevelopmental disorder
  • p.Val914fs Single submitter complex neurodevelopmental disorder
  • p.Gln800fs No assertion criteria SHANK1-related disorder

Conflicting classifications of pathogenicity 4

Benign 21

Benign/Likely benign 8

Likely benign 156

Uncertain significance 451

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