Sugi Variant

Sugi Variant/PUS1

PUS1 — 517 ClinVar variants

All ClinVar germline PUS1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 144 flagged for review →

21 Pathogenic · 11 Pathogenic/Likely pathogenic · 25 Likely pathogenic · 21 Conflicting · 13 Benign · 7 Benign/Likely benign · 263 Likely benign · 156 Uncertain significance

Full PUS1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 144

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 11

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

Predictors lean, ClinVar uncertain 106

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

Predictors split 27

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

All PUS1 variants

Pathogenic 21

Pathogenic/Likely pathogenic 11

  • p.Ala152fs Multiple submitters myopathy, lactic acidosis, and sideroblastic anemia
  • p.Ala280fs Multiple submitters myopathy, lactic acidosis, and sideroblastic anemia
  • p.Arg144Trp Multiple submitters myopathy, lactic acidosis, and sideroblastic anemia
  • p.Gln101Ter Multiple submitters myopathy, lactic acidosis, and sideroblastic anemia
  • p.Ile178fs Multiple submitters PUS1-related disorder
  • p.Lys169fs Multiple submitters myopathy, lactic acidosis, and sideroblastic anemia
  • p.Lys306Ter Multiple submitters myopathy, lactic acidosis, and sideroblastic anemia 1
  • p.Phe272fs Multiple submitters myopathy, lactic acidosis, and sideroblastic anemia 1
  • p.Ser26fs Multiple submitters myopathy, lactic acidosis, and sideroblastic anemia 1
  • p.Trp15Ter Multiple submitters PUS1-related disorder
  • p.Trp161Ter Multiple submitters myopathy, lactic acidosis, and sideroblastic anemia 1

Likely pathogenic 25

  • c.303+1G>T Single submitter
  • c.304-2A>G Single submitter
  • c.442-1G>T Single submitter myopathy, lactic acidosis, and sideroblastic anemia 1
  • c.545-1G>A Single submitter myopathy, lactic acidosis, and sideroblastic anemia 1
  • c.545-2A>G Single submitter
  • c.74+2del Single submitter
  • p.Arg295Trp Single submitter myopathy, lactic acidosis, and sideroblastic anemia 1
  • p.Gln293Ter Single submitter myopathy, lactic acidosis, and sideroblastic anemia 1
  • p.Gln345fs Single submitter myopathy, lactic acidosis, and sideroblastic anemia
  • p.Gln345Ter Single submitter myopathy, lactic acidosis, and sideroblastic anemia
  • p.Glu275fs Single submitter myopathy, lactic acidosis, and sideroblastic anemia
  • p.Glu60fs Single submitter myopathy, lactic acidosis, and sideroblastic anemia 1
  • p.Glu63Ter Single submitter myopathy, lactic acidosis, and sideroblastic anemia
  • p.Gly330fs Single submitter myopathy, lactic acidosis, and sideroblastic anemia 1
  • p.His173fs Single submitter myopathy, lactic acidosis, and sideroblastic anemia 1
  • p.Ile377fs Single submitter myopathy, lactic acidosis, and sideroblastic anemia
  • p.Lys285Ter Single submitter myopathy, lactic acidosis, and sideroblastic anemia
  • p.Met1Arg Single submitter myopathy, lactic acidosis, and sideroblastic anemia 1
  • p.Met1Leu Single submitter myopathy, lactic acidosis, and sideroblastic anemia 1
  • p.Phe245fs Single submitter myopathy, lactic acidosis, and sideroblastic anemia 1
  • p.Ser386fs Single submitter myopathy, lactic acidosis, and sideroblastic anemia 1
  • p.Tyr92Ter Single submitter myopathy, lactic acidosis, and sideroblastic anemia 1
  • p.Tyr97_Gly99delinsTer Single submitter myopathy, lactic acidosis, and sideroblastic anemia
  • p.Val155fs Single submitter myopathy, lactic acidosis, and sideroblastic anemia 1
  • p.Val298fs Single submitter myopathy, lactic acidosis, and sideroblastic anemia 1

Conflicting classifications of pathogenicity 21

  • c.545-3del Single submitter
  • c.545-4del Single submitter
  • c.545-7C>T Single submitter myopathy, lactic acidosis, and sideroblastic anemia 1
  • p.Ala403Thr Single submitter Inborn genetic diseases ⚠
  • p.Arg141= Single submitter myopathy, lactic acidosis, and sideroblastic anemia 1
  • p.Arg295Gln Single submitter myopathy, lactic acidosis, and sideroblastic anemia 1 ⚠
  • p.Asp324= Single submitter myopathy, lactic acidosis, and sideroblastic anemia 1
  • p.Gln293Pro Single submitter ⚠
  • p.Glu336= Single submitter myopathy, lactic acidosis, and sideroblastic anemia 1
  • p.Gly153Ser Single submitter ⚠
  • p.Gly379Ser Single submitter myopathy, lactic acidosis, and sideroblastic anemia 1 ⚠
  • p.Gly422= Single submitter myopathy, lactic acidosis, and sideroblastic anemia 1
  • p.Gly62Glu Single submitter Inborn genetic diseases ⚠
  • p.Gly73Asp Single submitter Inborn genetic diseases ⚠
  • p.Leu277Met Single submitter Inborn genetic diseases ⚠
  • p.Leu356= Single submitter myopathy, lactic acidosis, and sideroblastic anemia 1
  • p.Met1Val Single submitter myopathy, lactic acidosis, and sideroblastic anemia 1
  • p.Thr380= Single submitter myopathy, lactic acidosis, and sideroblastic anemia 1
  • p.Thr409Met Single submitter ⚠
  • p.Val217Ile Single submitter myopathy, lactic acidosis, and sideroblastic anemia 1 ⚠
  • p.Val302Met Single submitter myopathy, lactic acidosis, and sideroblastic anemia 1 ⚠

Benign 13

Benign/Likely benign 7

  • c.*208T>C Multiple submitters myopathy, lactic acidosis, and sideroblastic anemia 1
  • p.Asp115= Multiple submitters myopathy, lactic acidosis, and sideroblastic anemia 1
  • p.Leu333= Multiple submitters myopathy, lactic acidosis, and sideroblastic anemia 1
  • p.Phe340= Multiple submitters myopathy, lactic acidosis, and sideroblastic anemia 1
  • p.Phe399= Multiple submitters myopathy, lactic acidosis, and sideroblastic anemia 1
  • p.Thr207= Multiple submitters myopathy, lactic acidosis, and sideroblastic anemia 1
  • p.Val298= Multiple submitters myopathy, lactic acidosis, and sideroblastic anemia 1

Likely benign 263

Uncertain significance 156