ARMC2 — 135 ClinVar variants

All ClinVar germline ARMC2 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 109 flagged for review →

6 Pathogenic · 2 Likely pathogenic · 1 Conflicting · 8 Benign · 14 Likely benign · 104 Uncertain significance

Full ARMC2 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 109

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 1

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

Predictors lean, ClinVar uncertain 64

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

Predictors split 44

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

All ARMC2 variants

Pathogenic 6

  • p.Pro94fs Single submitter
  • c.1023+1G>A No assertion criteria male infertility with teratozoospermia due to single gene mutation
  • p.Gln141Ter No assertion criteria male infertility with teratozoospermia due to single gene mutation
  • p.Ile760Asn No assertion criteria male infertility with teratozoospermia due to single gene mutation ⚠
  • p.Leu785fs No assertion criteria male infertility with teratozoospermia due to single gene mutation
  • p.Lys428fs No assertion criteria male infertility with teratozoospermia due to single gene mutation

Likely pathogenic 2

Conflicting classifications of pathogenicity 1

Benign 8

  • c.219-4C>T No assertion criteria ARMC2-related disorder
  • p.Ala184Val No assertion criteria ARMC2-related disorder
  • p.Ala593= No assertion criteria ARMC2-related disorder
  • p.Gly438= No assertion criteria ARMC2-related disorder
  • p.Ile630Val No assertion criteria ARMC2-related disorder
  • p.Met166Thr No assertion criteria ARMC2-related disorder
  • p.Pro99= No assertion criteria ARMC2-related disorder
  • p.Thr546Met No assertion criteria ARMC2-related disorder ⚠

Likely benign 14

Uncertain significance 104