Sugi Variant

Sugi Variant/PLN

PLN — 148 ClinVar variants

All ClinVar germline PLN variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 47 flagged for review →

7 Pathogenic · 1 Pathogenic/Likely pathogenic · 2 Likely pathogenic · 12 Conflicting · 13 Benign · 1 Benign/Likely benign · 27 Likely benign · 85 Uncertain significance

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

⚑ Evidence disagreements 47

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 2

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

Predictors lean, ClinVar uncertain 14

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

Predictors split 31

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

All PLN variants

Pathogenic 7

Pathogenic/Likely pathogenic 1

  • p.Leu39Ter Multiple submitters PLN-related disorder

Likely pathogenic 2

  • p.Arg9Leu Single submitter dilated cardiomyopathy 1P ⚠
  • p.Gln22fs Single submitter hypertrophic cardiomyopathy 18

Conflicting classifications of pathogenicity 12

  • c.-56C>T Single submitter dilated cardiomyopathy 1P
  • c.*17C>G Single submitter
  • p.Ala11fs Single submitter Cardiovascular phenotype
  • p.Ala15Thr Single submitter dilated cardiomyopathy 1P ⚠
  • p.Arg25Cys Single submitter Cardiovascular phenotype ⚠
  • p.Arg9= Single submitter Cardiovascular phenotype
  • p.Arg9His Single submitter Cardiovascular phenotype ⚠
  • p.Asn30= Single submitter Cardiovascular phenotype
  • p.Gln29Ter Single submitter Cardiovascular phenotype
  • p.Met1Thr Single submitter Cardiovascular phenotype
  • p.Thr8Pro Single submitter PLN-related disorders ⚠
  • p.Val4fs Single submitter Cardiovascular phenotype

Benign 13

Benign/Likely benign 1

  • c.-150G>A Multiple submitters dilated cardiomyopathy 1P

Likely benign 27

Uncertain significance 85