Sugi Variant

Sugi Variant/ARMC5

ARMC5 — 302 ClinVar variants

All ClinVar germline ARMC5 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 170 flagged for review →

16 Pathogenic · 15 Likely pathogenic · 5 Conflicting · 19 Benign · 7 Benign/Likely benign · 64 Likely benign · 176 Uncertain significance

Full ARMC5 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 170

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 1

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

Predictors lean, ClinVar uncertain 70

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

Predictors split 98

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

All ARMC5 variants

Pathogenic 16

  • p.Ala409fs Single submitter ACTH-independent macronodular adrenal hyperplasia 2
  • p.Arg173Ter Single submitter
  • p.Arg364Ter Single submitter ACTH-independent macronodular adrenal hyperplasia 2
  • p.Arg764Ter Single submitter ACTH-independent macronodular adrenal hyperplasia 2
  • p.Leu199fs Single submitter Inborn genetic diseases
  • p.Ala110fs No assertion criteria ARMC5-related disorder
  • p.Arg267Ter No assertion criteria ACTH-independent macronodular adrenal hyperplasia 2
  • p.Arg898Trp No assertion criteria ACTH-independent macronodular adrenal hyperplasia 2
  • p.Cys813fs No assertion criteria ACTH-independent macronodular adrenal hyperplasia 2
  • p.Gln86Ter No assertion criteria ACTH-independent macronodular adrenal hyperplasia 2
  • p.Glu59fs No assertion criteria ACTH-independent macronodular adrenal hyperplasia 2
  • p.Gly57fs No assertion criteria ACTH-independent macronodular adrenal hyperplasia 2
  • p.Leu365Pro No assertion criteria ACTH-independent macronodular adrenal hyperplasia 2
  • p.Leu548Pro No assertion criteria ACTH-independent macronodular adrenal hyperplasia 2
  • p.Leu676fs No assertion criteria ACTH-independent macronodular adrenal hyperplasia 2
  • p.Ser95fs No assertion criteria ACTH-independent macronodular adrenal hyperplasia 2

Likely pathogenic 15

  • c.476-374_1370+221del Single submitter
  • p.Ala702Glu Single submitter Macronodular adrenal hyperplasia ⚠
  • p.Arg315Trp Single submitter ACTH-independent macronodular adrenal hyperplasia 2
  • p.Cys575fs Single submitter Cushing syndrome due to macronodular adrenal hyperplasia
  • p.Glu833Ter Single submitter ACTH-independent macronodular adrenal hyperplasia 2
  • p.Ile515fs Single submitter ACTH-independent macronodular adrenal hyperplasia 2
  • p.Ile58fs Single submitter
  • p.Leu373fs Single submitter ACTH-independent macronodular adrenal hyperplasia 2
  • p.Leu591fs Single submitter ACTH-independent macronodular adrenal hyperplasia 2
  • p.Pro501fs Single submitter ARMC5-related disorder
  • p.Tyr399Ter Single submitter ACTH-independent macronodular adrenal hyperplasia 2
  • p.Arg811Pro No assertion criteria ACTH-independent macronodular adrenal hyperplasia 2 ⚠
  • p.Gly323Asp No assertion criteria ACTH-independent macronodular adrenal hyperplasia 2 ⚠
  • p.Leu596Arg No assertion criteria ACTH-independent macronodular adrenal hyperplasia 2
  • p.Lys667Ter No assertion criteria ARMC5-related disorder

Conflicting classifications of pathogenicity 5

  • c.1371-3C>A Single submitter hereditary neoplastic syndrome
  • p.Arg357Cys Single submitter Inborn genetic diseases ⚠
  • p.Arg362Trp Single submitter ACTH-independent macronodular adrenal hyperplasia 2 ⚠
  • p.Arg499Trp Single submitter Inborn genetic diseases ⚠
  • p.Pro731Arg Single submitter ACTH-independent macronodular adrenal hyperplasia 2 ⚠

Benign 19

Benign/Likely benign 7

Likely benign 64

Uncertain significance 176