Sugi Variant

Sugi Variant/PRKN

PRKN — 483 ClinVar variants

All ClinVar germline PRKN variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 159 flagged for review →

38 Pathogenic · 13 Pathogenic/Likely pathogenic · 14 Likely pathogenic · 24 Conflicting · 50 Benign · 13 Benign/Likely benign · 119 Likely benign · 212 Uncertain significance

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

⚑ Evidence disagreements 159

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 7

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

Predictors lean, ClinVar uncertain 107

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 PRKN variants

Pathogenic 38

  • c.1083+1del Multiple submitters autosomal recessive juvenile Parkinson disease 2
  • p.Arg33Ter Multiple submitters PARK2-related disorders
  • p.Arg42Pro Multiple submitters autosomal recessive juvenile Parkinson disease 2
  • p.Asn52fs Multiple submitters lung cancer
  • p.Cys212Tyr Multiple submitters autosomal recessive juvenile Parkinson disease 2
  • p.Cys268Ter Multiple submitters
  • p.Gln34fs Multiple submitters autosomal recessive juvenile Parkinson disease 2
  • p.Gly284Arg Multiple submitters autosomal recessive juvenile Parkinson disease 2
  • c.106_269del Single submitter autosomal recessive juvenile Parkinson disease 2
  • c.1286-3C>G Single submitter
  • c.(171+1_172-1 Single submitter autosomal recessive juvenile Parkinson disease 2
  • c.(171+1_172-12671 Single submitter autosomal recessive juvenile Parkinson disease 2
  • c.618+7842_618+7934inv Single submitter autosomal recessive juvenile Parkinson disease 2
  • c.619-1G>C Single submitter autosomal recessive juvenile Parkinson disease 2
  • c.7+1G>T Single submitter autosomal recessive juvenile Parkinson disease 2
  • c.717_832del Single submitter autosomal recessive juvenile Parkinson disease 2
  • c.717_969del Single submitter autosomal recessive juvenile Parkinson disease 2
  • c.717_969dup Single submitter autosomal recessive juvenile Parkinson disease 2
  • c.8-?_171+?del Single submitter autosomal recessive juvenile Parkinson disease 2
  • c.833_1181del Single submitter autosomal recessive juvenile Parkinson disease 2
  • c.872-1G>C Single submitter
  • p.Cys451fs Single submitter
  • p.Gln282Ter Single submitter
  • p.Leu187Ter Single submitter
  • p.Lys211_Ile239delinsAsn Single submitter autosomal recessive juvenile Parkinson disease 2
  • p.Lys349fs Single submitter
  • p.Trp445Ter Single submitter
  • p.Trp453Ter Single submitter
  • p.Val248fs Single submitter
  • p.Val324fs Single submitter autosomal recessive juvenile Parkinson disease 2
  • c.(?_171+24726 No assertion criteria ovarian neoplasm
  • c.172-?_871+?del No assertion criteria autosomal recessive juvenile Parkinson disease 2
  • c.536_735del No assertion criteria autosomal recessive juvenile Parkinson disease 2
  • c.735-?_871+?del No assertion criteria autosomal recessive juvenile Parkinson disease 2
  • c.872-?_1083+?del No assertion criteria autosomal recessive juvenile Parkinson disease 2
  • p.Cys431Phe No assertion criteria autosomal recessive juvenile Parkinson disease 2
  • p.Gln311Ter No assertion criteria autosomal recessive juvenile Parkinson disease 2
  • p.Thr240Arg No assertion criteria autosomal recessive juvenile Parkinson disease 2

Pathogenic/Likely pathogenic 13

  • p.Arg275Trp Multiple submitters PARK2 & PRKN-related disorders
  • p.Arg33Gln Multiple submitters autosomal recessive juvenile Parkinson disease 2 ⚠
  • p.Cys201Ter Multiple submitters lung adenocarcinoma
  • p.Cys253Tyr Multiple submitters ovarian cancer
  • p.Cys441Arg Multiple submitters autosomal recessive juvenile Parkinson disease 2
  • p.Gln25Ter Multiple submitters ovarian neoplasm
  • p.Gly430Asp Multiple submitters young-onset Parkinson disease
  • p.Lys211Asn Multiple submitters PARK2-related disorders
  • p.Met1Thr Multiple submitters autosomal dominant Parkinson disease 1
  • p.Met1Val Multiple submitters young-onset Parkinson disease
  • p.Pro113fs Multiple submitters autosomal recessive juvenile Parkinson disease 2
  • p.Trp74fs Multiple submitters autosomal recessive juvenile Parkinson disease 2
  • p.Val56Glu Multiple submitters autosomal recessive juvenile Parkinson disease 2

Likely pathogenic 14

Conflicting classifications of pathogenicity 24

  • c.535-9T>A Single submitter autosomal recessive juvenile Parkinson disease 2
  • c.735-14C>G Single submitter autosomal recessive juvenile Parkinson disease 2
  • p.Arg256Cys Single submitter autosomal recessive juvenile Parkinson disease 2 ⚠
  • p.Arg334Cys Single submitter autosomal recessive juvenile Parkinson disease 2 ⚠
  • p.Arg366Trp Single submitter autosomal recessive juvenile Parkinson disease 2 ⚠
  • p.Arg396Gly Single submitter ⚠
  • p.Arg402Cys Single submitter autosomal recessive juvenile Parkinson disease 2 ⚠
  • p.Arg42His Single submitter autosomal recessive juvenile Parkinson disease 2 ⚠
  • p.Asn58= Single submitter autosomal recessive juvenile Parkinson disease 2
  • p.Asp18Asn Single submitter ⚠
  • p.Gln347= Single submitter autosomal recessive juvenile Parkinson disease 2
  • p.Glu16= Single submitter autosomal recessive juvenile Parkinson disease 2
  • p.Gly359Asp Single submitter ⚠
  • p.Gly430Ser Single submitter young-onset Parkinson disease ⚠
  • p.Gly85= Single submitter autosomal recessive juvenile Parkinson disease 2
  • p.Leu272Ile Single submitter autosomal recessive juvenile Parkinson disease 2
  • p.Met458Leu Single submitter
  • p.Pro37Leu Single submitter autosomal recessive juvenile Parkinson disease 2 ⚠
  • p.Pro437Leu Single submitter Parkinson disease 12 ⚠
  • p.Ser255= Single submitter
  • p.Thr240Met Single submitter PARK2-related disorders ⚠
  • p.Val244Ile Single submitter Inborn genetic diseases ⚠
  • p.Val248= Single submitter autosomal recessive juvenile Parkinson disease 2
  • p.Val248Ile Single submitter Inborn genetic diseases ⚠

Benign 50

Benign/Likely benign 13

  • c.172-17dup Multiple submitters
  • c.172-18del Multiple submitters autosomal recessive juvenile Parkinson disease 2
  • c.172-18T>A Multiple submitters
  • c.*94A>G Multiple submitters autosomal recessive juvenile Parkinson disease 2
  • p.Ala339= Multiple submitters
  • p.Ala46Thr Multiple submitters autosomal recessive juvenile Parkinson disease 2 ⚠
  • p.Ala82Glu Multiple submitters autosomal recessive juvenile Parkinson disease 2
  • p.Asp394Asn Multiple submitters ovarian neoplasm
  • p.Cys238= Multiple submitters lung cancer
  • p.Gln34Arg Multiple submitters autosomal recessive juvenile Parkinson disease 2 ⚠
  • p.Gly319= Multiple submitters autosomal recessive juvenile Parkinson disease 2
  • p.Leu261= Multiple submitters autosomal recessive juvenile Parkinson disease 2
  • p.Leu272= Multiple submitters Inborn genetic diseases

Likely benign 119

Uncertain significance 212