Sugi Variant

Sugi Variant/PROK2

PROK2 — 90 ClinVar variants

All ClinVar germline PROK2 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 35 flagged for review →

3 Pathogenic · 5 Likely pathogenic · 6 Conflicting · 8 Benign · 2 Benign/Likely benign · 22 Likely benign · 44 Uncertain significance

Full PROK2 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 35

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 3

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

Predictors lean, ClinVar uncertain 22

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

Predictors split 10

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

All PROK2 variants

Pathogenic 3

  • p.Ser54_Ile55insTer Multiple submitters Male infertility with azoospermia or oligozoospermia due to single gene mutation
  • p.Cys34fs Single submitter
  • p.Cys34Tyr No assertion criteria hypogonadotropic hypogonadism 4 with or without anosmia

Likely pathogenic 5

  • p.His105Tyr Single submitter Male infertility with spermatogenesis disorder
  • p.Ile124fs Single submitter hypogonadotropic hypogonadism 4 with or without anosmia
  • p.Met1Thr Single submitter hypogonadotropic hypogonadism 4 with or without anosmia
  • c.286-1G>A No assertion criteria hypogonadotropic hypogonadism 4 with or without anosmia
  • p.Thr21fs No assertion criteria hypogonadotropic hypogonadism 4 with or without anosmia

Conflicting classifications of pathogenicity 6

  • c.223-2A>G Single submitter
  • c.-4C>A Single submitter hypogonadotropic hypogonadism 4 with or without anosmia
  • p.Arg73Cys Single submitter hypogonadotropic hypogonadism ⚠
  • p.Gly100fs Single submitter hypogonadotropic hypogonadism 4 with or without anosmia
  • p.Gly41Asp Single submitter Male infertility with spermatogenesis disorder ⚠
  • p.Ala24Pro No assertion criteria PROK2-related disorder ⚠

Benign 8

Benign/Likely benign 2

  • c.*2C>T Multiple submitters
  • p.Ala28= Multiple submitters hypogonadotropic hypogonadism 4 with or without anosmia

Likely benign 22

Uncertain significance 44