Sugi Variant

Sugi Variant/LARP7

LARP7 — 381 ClinVar variants

All ClinVar germline LARP7 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 121 flagged for review →

54 Pathogenic · 7 Pathogenic/Likely pathogenic · 33 Likely pathogenic · 7 Conflicting · 20 Benign · 5 Benign/Likely benign · 109 Likely benign · 146 Uncertain significance

Full LARP7 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 121

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 3

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

Predictors lean, ClinVar uncertain 95

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

Predictors split 23

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

All LARP7 variants

Pathogenic 54

Pathogenic/Likely pathogenic 7

  • p.Arg227Ter Multiple submitters LARP7-related disorder
  • p.Arg309Ter Multiple submitters LARP7-related disorder
  • p.Gln41fs Multiple submitters microcephalic primordial dwarfism, Alazami type
  • p.Gly260_Ser261insTer Multiple submitters microcephalic primordial dwarfism, Alazami type
  • p.His359fs Multiple submitters LARP7-related disorder
  • p.Ser273Ter Multiple submitters LARP7-related disorder
  • p.Thr405fs Multiple submitters microcephalic primordial dwarfism, Alazami type

Likely pathogenic 33

Conflicting classifications of pathogenicity 7

  • c.297_303+2del Single submitter microcephalic primordial dwarfism, Alazami type
  • c.552+1G>T Single submitter LARP7-related disorder
  • p.Ala542fs Single submitter microcephalic primordial dwarfism, Alazami type
  • p.Arg577Ser Single submitter Inborn genetic diseases ⚠
  • p.Glu217Asp Single submitter microcephalic primordial dwarfism, Alazami type ⚠
  • p.Ile334Thr Single submitter Inborn genetic diseases ⚠
  • p.Thr107Ile Single submitter microcephalic primordial dwarfism, Alazami type ⚠

Benign 20

Benign/Likely benign 5

Likely benign 109

Uncertain significance 146