Sugi Variant

Sugi Variant/PARK7

PARK7 — 147 ClinVar variants

All ClinVar germline PARK7 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 48 flagged for review →

9 Pathogenic · 6 Likely pathogenic · 1 Conflicting · 40 Benign · 4 Benign/Likely benign · 32 Likely benign · 55 Uncertain significance

Full PARK7 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 48

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 2

ClinVar calls these pathogenic, but the computational predictors lean tolerated — the highest-value review flag.

Predictors lean, ClinVar uncertain 39

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

Predictors split 7

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

All PARK7 variants

Pathogenic 9

  • p.Ala36fs Multiple submitters autosomal recessive early-onset Parkinson disease 7
  • p.Glu64fs Multiple submitters autosomal recessive early-onset Parkinson disease 7
  • p.Arg28Ter Single submitter autosomal recessive early-onset Parkinson disease 7
  • p.Gln45Ter Single submitter amyotrophic lateral sclerosis-parkinsonism-dementia complex
  • p.Gly108Ser Single submitter autosomal recessive early-onset Parkinson disease 7 ⚠
  • p.Ala39Ser No assertion criteria Parkinson disease, autosomal recessive early-onset, digenic, PINK1/DJ1 ⚠
  • p.Glu64Asp No assertion criteria autosomal recessive early-onset Parkinson disease 7 ⚠
  • p.Leu166Pro No assertion criteria autosomal recessive early-onset Parkinson disease 7
  • p.Met26Ile No assertion criteria autosomal recessive early-onset Parkinson disease 7 ⚠

Likely pathogenic 6

  • p.Pro158del Multiple submitters autosomal recessive early-onset Parkinson disease 7
  • c.192+1G>T Single submitter autosomal recessive early-onset Parkinson disease 7
  • c.90+1dup Single submitter autosomal recessive early-onset Parkinson disease 7
  • p.Leu101Pro Single submitter autosomal recessive early-onset Parkinson disease 7
  • p.Thr154Ala Single submitter young-onset Parkinson disease
  • p.Arg28Gln No assertion criteria autosomal recessive early-onset Parkinson disease 7

Conflicting classifications of pathogenicity 1

  • p.Ala167= Single submitter autosomal recessive early-onset Parkinson disease 7

Benign 40

Benign/Likely benign 4

  • c.252+18A>G Multiple submitters autosomal recessive early-onset Parkinson disease 7
  • p.Ala56Thr Multiple submitters autosomal recessive early-onset Parkinson disease 7
  • p.Arg98Gln Multiple submitters renal cysts and diabetes syndrome
  • p.Gly78= Multiple submitters autosomal recessive early-onset Parkinson disease 7

Likely benign 32

  • c.252+47A>G Multiple submitters
  • c.252+8dup Multiple submitters autosomal recessive early-onset Parkinson disease 7
  • c.410-9A>G Multiple submitters autosomal recessive early-onset Parkinson disease 7
  • c.91-4G>A Multiple submitters autosomal recessive early-onset Parkinson disease 7
  • c.*124C>T Multiple submitters autosomal recessive early-onset Parkinson disease 7
  • c.193-17G>A Single submitter autosomal recessive early-onset Parkinson disease 7
  • c.193-279A>G Single submitter
  • c.252+45_252+46del Single submitter
  • c.252+46dup Single submitter
  • c.252+80dup Single submitter
  • c.252+8A>C Single submitter autosomal recessive early-onset Parkinson disease 7
  • c.252+8A>G Single submitter autosomal recessive early-onset Parkinson disease 7
  • c.253-4C>T Single submitter
  • c.322+12G>A Single submitter autosomal recessive early-onset Parkinson disease 7
  • c.323-10T>A Single submitter autosomal recessive early-onset Parkinson disease 7
  • c.323-16T>C Single submitter autosomal recessive early-onset Parkinson disease 7
  • c.323-20C>A Single submitter autosomal recessive early-onset Parkinson disease 7
  • c.409+18TTTG[3] Single submitter autosomal recessive early-onset Parkinson disease 7
  • c.409+18TTTG[5] Single submitter autosomal recessive early-onset Parkinson disease 7
  • c.90+12A>G Single submitter autosomal recessive early-onset Parkinson disease 7
  • c.91-4G>C Single submitter autosomal recessive early-onset Parkinson disease 7
  • c.91-5C>T Single submitter autosomal recessive early-onset Parkinson disease 7
  • p.Ala103= Single submitter autosomal recessive early-onset Parkinson disease 7
  • p.Ala178= Single submitter autosomal recessive early-onset Parkinson disease 7
  • p.Asp149Ala Single submitter autosomal recessive early-onset Parkinson disease 7
  • p.Gln95= Single submitter
  • p.Glu143= Single submitter autosomal recessive early-onset Parkinson disease 7
  • p.Glu18= Single submitter autosomal recessive early-onset Parkinson disease 7
  • p.Gly100= Single submitter autosomal recessive early-onset Parkinson disease 7
  • p.Ile91= Single submitter autosomal recessive early-onset Parkinson disease 7
  • p.Lys32= Single submitter autosomal recessive early-onset Parkinson disease 7
  • p.Pro66= Single submitter autosomal recessive early-onset Parkinson disease 7

Uncertain significance 55

  • c.*125G>A Multiple submitters autosomal recessive early-onset Parkinson disease 7
  • p.Ala104Thr Multiple submitters autosomal recessive early-onset Parkinson disease 7 ⚠
  • p.Ala167Gly Multiple submitters autosomal recessive early-onset Parkinson disease 7 ⚠
  • p.Ala179Thr Multiple submitters autosomal recessive early-onset Parkinson disease 7 ⚠
  • p.Ile168Val Multiple submitters autosomal recessive early-onset Parkinson disease 7 ⚠
  • p.Lys132Arg Multiple submitters autosomal recessive early-onset Parkinson disease 7 ⚠
  • p.Pro73Leu Multiple submitters ⚠
  • p.Thr110Ala Multiple submitters autosomal recessive early-onset Parkinson disease 7 ⚠
  • p.Thr34Ile Multiple submitters autosomal recessive early-onset Parkinson disease 7 ⚠
  • p.Val25Ile Multiple submitters Inborn genetic diseases ⚠
  • p.Val35Ile Multiple submitters autosomal recessive early-onset Parkinson disease 7 ⚠
  • c.322+6G>A Single submitter autosomal recessive early-onset Parkinson disease 7
  • c.410delG Single submitter
  • c.91-11C>T Single submitter autosomal recessive early-onset Parkinson disease 7
  • c.-30G>C Single submitter autosomal recessive early-onset Parkinson disease 7
  • c.-80T>A Single submitter autosomal recessive early-onset Parkinson disease 7
  • c.*185T>A Single submitter autosomal recessive early-onset Parkinson disease 7
  • c.*49A>G Single submitter autosomal recessive early-onset Parkinson disease 7
  • p.Ala165Val Single submitter autosomal recessive early-onset Parkinson disease 7 ⚠
  • p.Ala171Ser Single submitter autosomal recessive early-onset Parkinson disease 7 ⚠
  • p.Ala178Val Single submitter Inborn genetic diseases ⚠
  • p.Ala56Val Single submitter Inborn genetic diseases ⚠
  • p.Ala6Ser Single submitter autosomal recessive early-onset Parkinson disease 7 ⚠
  • p.Ala79Thr Single submitter autosomal recessive early-onset Parkinson disease 7 ⚠
  • p.Arg145His Single submitter Inborn genetic diseases ⚠
  • p.Arg145Ser Single submitter ⚠
  • p.Arg156Gln Single submitter Inborn genetic diseases ⚠
  • p.Arg48Cys Single submitter autosomal recessive early-onset Parkinson disease 7 ⚠
  • p.Arg98Trp Single submitter autosomal recessive early-onset Parkinson disease 7
  • p.Asp149fs Single submitter autosomal recessive early-onset Parkinson disease 7
  • p.Asp68Val Single submitter ⚠
  • p.Cys106Tyr Single submitter ⚠
  • p.Gly150Ser Single submitter autosomal recessive early-onset Parkinson disease 7 ⚠
  • p.Gly75Ser Single submitter autosomal recessive early-onset Parkinson disease 7 ⚠
  • p.Gly78Asp Single submitter autosomal recessive early-onset Parkinson disease 7 ⚠
  • p.His126Arg Single submitter juvenile-onset Parkinson disease ⚠
  • p.Ile31Val Single submitter autosomal recessive early-onset Parkinson disease 7 ⚠
  • p.Ile91Val Single submitter autosomal recessive early-onset Parkinson disease 7 ⚠
  • p.Leu10Val Single submitter autosomal recessive early-onset Parkinson disease 7 ⚠
  • p.Leu172Gln Single submitter autosomal recessive early-onset Parkinson disease 7 ⚠
  • p.Leu185Phe Single submitter Inborn genetic diseases ⚠
  • p.Lys148Thr Single submitter Inborn genetic diseases ⚠
  • p.Pro109Ser Single submitter Inborn genetic diseases ⚠
  • p.Ser142Phe Single submitter autosomal recessive early-onset Parkinson disease 7 ⚠
  • p.Ser161Thr Single submitter autosomal recessive early-onset Parkinson disease 7 ⚠
  • p.Ser47Arg Single submitter Inborn genetic diseases ⚠
  • p.Ser85Pro Single submitter autosomal recessive early-onset Parkinson disease 7 ⚠
  • p.Thr19Met Single submitter autosomal recessive early-onset Parkinson disease 7 ⚠
  • p.Val146Gly Single submitter autosomal recessive early-onset Parkinson disease 7 ⚠
  • p.Val146Met Single submitter ⚠
  • p.Val169Phe Single submitter ⚠
  • p.Val20Ala Single submitter autosomal recessive early-onset Parkinson disease 7 ⚠
  • p.Val23Ile Single submitter ⚠
  • c.-24+66C>G No assertion criteria PARK7-related disorder
  • p.Met133Ile No assertion criteria late-onset Parkinson disease ⚠