Sugi Variant

Sugi Variant/CASQ1

CASQ1 — 390 ClinVar variants

All ClinVar germline CASQ1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 182 flagged for review →

2 Pathogenic · 3 Likely pathogenic · 11 Conflicting · 15 Benign · 11 Benign/Likely benign · 124 Likely benign · 224 Uncertain significance

Full CASQ1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 182

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 6

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

Predictors lean, ClinVar uncertain 99

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

Predictors split 76

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

All CASQ1 variants

Pathogenic 2

  • p.Asp244Gly Multiple submitters myopathy due to calsequestrin and SERCA1 protein overload ⚠
  • p.Asn56Tyr Single submitter tubular aggregate myopathy

Likely pathogenic 3

Conflicting classifications of pathogenicity 11

Benign 15

Benign/Likely benign 11

  • c.364+9G>T Multiple submitters myopathy due to calsequestrin and SERCA1 protein overload
  • c.365-31_365-7del Multiple submitters
  • p.Ala172= Multiple submitters Inborn genetic diseases
  • p.Ile149= Multiple submitters Inborn genetic diseases
  • p.Lys79= Multiple submitters Inborn genetic diseases
  • p.Phe326= Multiple submitters Inborn genetic diseases
  • p.Pro13= Multiple submitters Inborn genetic diseases
  • p.Pro9= Multiple submitters Inborn genetic diseases
  • p.Ser248= Multiple submitters Inborn genetic diseases
  • p.Thr148= Multiple submitters Inborn genetic diseases
  • p.Thr336= Multiple submitters Inborn genetic diseases

Likely benign 124

Uncertain significance 224