Sugi Variant

Sugi Variant/RAD54L

RAD54L — 1034 ClinVar variants

All ClinVar germline RAD54L variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 643 flagged for review →

3 Pathogenic · 6 Likely pathogenic · 6 Conflicting · 3 Benign · 6 Benign/Likely benign · 348 Likely benign · 662 Uncertain significance

Full RAD54L gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 643

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 5

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

Predictors lean, ClinVar uncertain 490

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 490

Predictors split 147

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

All RAD54L variants

Pathogenic 3

  • p.Gly325Arg No assertion criteria breast ductal adenocarcinoma
  • p.Pro63His No assertion criteria colon adenocarcinoma ⚠
  • p.Val444Glu No assertion criteria non-Hodgkin lymphoma

Likely pathogenic 6

  • p.Arg542Cys Multiple submitters polymorphous low grade neuroepithelial tumor of the young
  • p.Arg634Cys Single submitter primary ovarian failure
  • p.Glu628Ala Single submitter primary ovarian failure
  • p.Gly345Cys Single submitter Inborn genetic diseases
  • p.Pro433fs Single submitter hereditary breast carcinoma
  • p.Tyr89Ter Single submitter lymphoma, non-Hodgkin, familial

Conflicting classifications of pathogenicity 6

Benign 3

  • c.1042+55G>C Multiple submitters hereditary breast ovarian cancer syndrome
  • p.Ala730= Multiple submitters hereditary breast ovarian cancer syndrome
  • c.-4C>G Single submitter

Benign/Likely benign 6

  • c.1042+78G>A Multiple submitters hereditary breast ovarian cancer syndrome
  • c.892-26C>T Multiple submitters hereditary breast ovarian cancer syndrome
  • p.Arg534Cys Multiple submitters hereditary breast ovarian cancer syndrome ⚠
  • p.Asp21Gly Multiple submitters hereditary breast ovarian cancer syndrome
  • p.Gly298= Multiple submitters hereditary breast ovarian cancer syndrome
  • p.Leu539= Multiple submitters hereditary breast ovarian cancer syndrome

Likely benign 348

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

Uncertain significance 662

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