Sugi Variant

Sugi Variant/PACS1

PACS1 — 994 ClinVar variants

All ClinVar germline PACS1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 348 flagged for review →

1 Pathogenic · 1 Pathogenic/Likely pathogenic · 2 Likely pathogenic · 60 Conflicting · 92 Benign · 46 Benign/Likely benign · 424 Likely benign · 368 Uncertain significance

Full PACS1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 348

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 1

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

Predictors agree, ClinVar conflicts 38

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

Predictors lean, ClinVar uncertain 208

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 208

Predictors split 101

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

All PACS1 variants

Pathogenic 1

Pathogenic/Likely pathogenic 1

  • p.Arg203Trp Multiple submitters PACS1-related syndrome

Likely pathogenic 2

Conflicting classifications of pathogenicity 60

Benign 92

Benign/Likely benign 46

  • c.1199+10C>G Multiple submitters Schuurs-Hoeijmakers syndrome
  • c.1293+6C>T Multiple submitters Inborn genetic diseases
  • c.1731+18G>A Multiple submitters Schuurs-Hoeijmakers syndrome
  • c.1838+9T>C Multiple submitters Schuurs-Hoeijmakers syndrome
  • c.1839-19C>T Multiple submitters Schuurs-Hoeijmakers syndrome
  • c.1993+18C>T Multiple submitters Schuurs-Hoeijmakers syndrome
  • c.2294-7_2294-6del Multiple submitters Schuurs-Hoeijmakers syndrome
  • c.2776+5G>A Multiple submitters Inborn genetic diseases
  • c.445-15T>C Multiple submitters Schuurs-Hoeijmakers syndrome
  • c.534+13T>C Multiple submitters Schuurs-Hoeijmakers syndrome
  • c.535-4G>A Multiple submitters Schuurs-Hoeijmakers syndrome
  • c.661-5C>G Multiple submitters Inborn genetic diseases
  • c.897+9C>G Multiple submitters Schuurs-Hoeijmakers syndrome
  • p.Ala726= Multiple submitters Inborn genetic diseases
  • p.Ala792= Multiple submitters Inborn genetic diseases
  • p.Ala843Val Multiple submitters Schuurs-Hoeijmakers syndrome
  • p.Arg309Gln Multiple submitters Schuurs-Hoeijmakers syndrome
  • p.Arg356His Multiple submitters Schuurs-Hoeijmakers syndrome
  • p.Arg733Gln Multiple submitters Inborn genetic diseases
  • p.Arg790= Multiple submitters Inborn genetic diseases
  • p.Asn715Ser Multiple submitters Schuurs-Hoeijmakers syndrome
  • p.Asp818= Multiple submitters Inborn genetic diseases
  • p.Asp842= Multiple submitters Schuurs-Hoeijmakers syndrome
  • p.Gln37_Gln44dup Multiple submitters Schuurs-Hoeijmakers syndrome
  • p.Gln40_Pro41insGln Multiple submitters Inborn genetic diseases
  • p.Gly228= Multiple submitters Inborn genetic diseases
  • p.Gly233Asp Multiple submitters Inborn genetic diseases
  • p.Gly838= Multiple submitters Schuurs-Hoeijmakers syndrome
  • p.His539= Multiple submitters Inborn genetic diseases
  • p.Leu211= Multiple submitters Schuurs-Hoeijmakers syndrome
  • p.Leu861= Multiple submitters Inborn genetic diseases
  • p.Lys850Arg Multiple submitters Schuurs-Hoeijmakers syndrome
  • p.Met406Leu Multiple submitters Schuurs-Hoeijmakers syndrome
  • p.Met657Leu Multiple submitters Inborn genetic diseases
  • p.Met802Val Multiple submitters Inborn genetic diseases
  • p.Ser286= Multiple submitters Schuurs-Hoeijmakers syndrome
  • p.Ser411= Multiple submitters Schuurs-Hoeijmakers syndrome
  • p.Ser486Asn Multiple submitters Schuurs-Hoeijmakers syndrome
  • p.Thr319= Multiple submitters Inborn genetic diseases
  • p.Thr394= Multiple submitters Schuurs-Hoeijmakers syndrome
  • p.Val213Met Multiple submitters Inborn genetic diseases
  • p.Val231Leu Multiple submitters Schuurs-Hoeijmakers syndrome
  • p.Val499Leu Multiple submitters Schuurs-Hoeijmakers syndrome
  • p.Val602Met Multiple submitters Schuurs-Hoeijmakers syndrome ⚠
  • p.Val714Ile Multiple submitters Inborn genetic diseases
  • p.Val819Met Multiple submitters Inborn genetic diseases

Likely benign 424

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

Uncertain significance 368

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