Sugi Variant

Sugi Variant/PUS7

PUS7 — 164 ClinVar variants

All ClinVar germline PUS7 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 88 flagged for review →

20 Pathogenic · 4 Pathogenic/Likely pathogenic · 13 Likely pathogenic · 2 Conflicting · 9 Benign · 1 Benign/Likely benign · 20 Likely benign · 95 Uncertain significance

Full PUS7 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 88

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 1

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

Predictors lean, ClinVar uncertain 69

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

Predictors split 18

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

All PUS7 variants

Pathogenic 20

  • p.Glu132fs Multiple submitters Inborn genetic diseases
  • p.Leu366fs Multiple submitters intellectual developmental disorder with abnormal behavior, microcephaly, and short stature
  • c.(1757+1_1758-1 Single submitter intellectual developmental disorder with abnormal behavior, microcephaly, and short stature
  • c.920+4_920+7del Single submitter intellectual developmental disorder with abnormal behavior, microcephaly, and short stature
  • p.Arg178Ter Single submitter intellectual developmental disorder with abnormal behavior, microcephaly, and short stature
  • p.Arg450Ter Single submitter intellectual developmental disorder with abnormal behavior, microcephaly, and short stature
  • p.Arg640Ter Single submitter intellectual developmental disorder with abnormal behavior, microcephaly, and short stature
  • p.Asn333fs Single submitter intellectual developmental disorder with abnormal behavior, microcephaly, and short stature
  • p.Asp503fs Single submitter intellectual developmental disorder with abnormal behavior, microcephaly, and short stature
  • p.Asp592fs Single submitter
  • p.Cys421Ter Single submitter intellectual developmental disorder with abnormal behavior, microcephaly, and short stature
  • p.Glu141_Ile142insTer Single submitter intellectual developmental disorder with abnormal behavior, microcephaly, and short stature
  • p.Glu424Ter Single submitter intellectual developmental disorder with abnormal behavior, microcephaly, and short stature
  • p.Ile54fs Single submitter intellectual developmental disorder with abnormal behavior, microcephaly, and short stature
  • p.Leu52fs Single submitter intellectual developmental disorder with abnormal behavior, microcephaly, and short stature
  • p.Lys32fs Single submitter intellectual developmental disorder with abnormal behavior, microcephaly, and short stature
  • p.Phe323fs Single submitter
  • p.Trp425Ter Single submitter intellectual developmental disorder with abnormal behavior, microcephaly, and short stature
  • p.Thr110fs No assertion criteria intellectual developmental disorder with abnormal behavior, microcephaly, and short stature
  • p.Thr30fs No assertion criteria intellectual developmental disorder with abnormal behavior, microcephaly, and short stature

Pathogenic/Likely pathogenic 4

  • c.1399-1G>C Multiple submitters intellectual developmental disorder with abnormal behavior, microcephaly, and short stature
  • p.Asp503Tyr Multiple submitters intellectual developmental disorder with abnormal behavior, microcephaly, and short stature
  • p.Leu214fs Multiple submitters intellectual developmental disorder with abnormal behavior, microcephaly, and short stature
  • p.Ser100fs Multiple submitters intellectual developmental disorder with abnormal behavior, microcephaly, and short stature

Likely pathogenic 13

  • c.1238-1G>A Single submitter intellectual developmental disorder with abnormal behavior, microcephaly, and short stature
  • c.399-2A>T Single submitter intellectual developmental disorder with abnormal behavior, microcephaly, and short stature
  • c.483+1G>A Single submitter
  • c.843-1G>A Single submitter intellectual developmental disorder with abnormal behavior, microcephaly, and short stature
  • p.Arg410Cys Single submitter intellectual developmental disorder with abnormal behavior, microcephaly, and short stature
  • p.Lys34fs Single submitter intellectual developmental disorder with abnormal behavior, microcephaly, and short stature
  • p.Phe101fs Single submitter intellectual developmental disorder with abnormal behavior, microcephaly, and short stature
  • p.Trp399Ter Single submitter intellectual developmental disorder with abnormal behavior, microcephaly, and short stature
  • p.Tyr234Ter Single submitter intellectual developmental disorder with abnormal behavior, microcephaly, and short stature
  • p.Tyr374Ser Single submitter intellectual developmental disorder with abnormal behavior, microcephaly, and short stature
  • p.Val196Phe Single submitter intellectual developmental disorder with abnormal behavior, microcephaly, and short stature
  • p.Val390Ala Single submitter intellectual developmental disorder with abnormal behavior, microcephaly, and short stature
  • p.Ser462fs No assertion criteria intellectual developmental disorder with abnormal behavior, microcephaly, and short stature

Conflicting classifications of pathogenicity 2

Benign 9

  • c.585+43G>C Multiple submitters intellectual developmental disorder with abnormal behavior, microcephaly, and short stature
  • c.842+44A>G Multiple submitters intellectual developmental disorder with abnormal behavior, microcephaly, and short stature
  • c.921-5del Multiple submitters intellectual developmental disorder with abnormal behavior, microcephaly, and short stature
  • p.Ala463= Multiple submitters
  • c.483+42dup Single submitter intellectual developmental disorder with abnormal behavior, microcephaly, and short stature
  • c.921-5dup No assertion criteria PUS7-related disorder
  • c.*5T>C No assertion criteria PUS7-related disorder
  • p.His123Tyr No assertion criteria PUS7-related disorder
  • p.Leu438= No assertion criteria PUS7-related disorder

Benign/Likely benign 1

Likely benign 20

Uncertain significance 95