Sugi Variant

Sugi Variant/PLAA

PLAA — 570 ClinVar variants

All ClinVar germline PLAA variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 241 flagged for review →

9 Pathogenic · 4 Likely pathogenic · 8 Conflicting · 13 Benign · 6 Benign/Likely benign · 257 Likely benign · 273 Uncertain significance

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

⚑ Evidence disagreements 241

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 4

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

Predictors lean, ClinVar uncertain 131

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

Predictors split 106

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

All PLAA variants

Pathogenic 9

  • p.Arg268Ter Single submitter Inborn genetic diseases
  • p.Asp40Glu Single submitter neurodevelopmental disorder with progressive microcephaly, spasticity, and brain anomalies
  • p.Pro81Ter Single submitter neurodevelopmental disorder with progressive microcephaly, spasticity, and brain anomalies
  • p.Cys277Arg No assertion criteria neurodevelopmental disorder with progressive microcephaly, spasticity, and brain anomalies
  • p.Glu350Val No assertion criteria neurodevelopmental disorder with progressive microcephaly, spasticity, and brain anomalies
  • p.Gly23Val No assertion criteria neurodevelopmental disorder with progressive microcephaly, spasticity, and brain anomalies
  • p.Leu24fs No assertion criteria neurodevelopmental disorder with progressive microcephaly, spasticity, and brain anomalies
  • p.Leu752Phe No assertion criteria neurodevelopmental disorder with progressive microcephaly, spasticity, and brain anomalies
  • p.Val287= No assertion criteria

Likely pathogenic 4

  • p.Arg524Ter Multiple submitters neurodevelopmental disorder with progressive microcephaly, spasticity, and brain anomalies
  • p.Asp284fs Single submitter neurodevelopmental disorder with progressive microcephaly, spasticity, and brain anomalies
  • p.Lys783_Val784insTer Single submitter neurodevelopmental disorder with progressive microcephaly, spasticity, and brain anomalies
  • p.Trp600Ter Single submitter neurodevelopmental disorder with progressive microcephaly, spasticity, and brain anomalies

Conflicting classifications of pathogenicity 8

Benign 13

Benign/Likely benign 6

  • c.1486+6A>T Multiple submitters neurodevelopmental disorder with progressive microcephaly, spasticity, and brain anomalies
  • p.Gly327= Multiple submitters
  • p.His319= Multiple submitters neurodevelopmental disorder with progressive microcephaly, spasticity, and brain anomalies
  • p.Leu582= Multiple submitters
  • p.Ser238= Multiple submitters
  • p.Thr304= Multiple submitters

Likely benign 257

Uncertain significance 273