Sugi Variant

Sugi Variant/PHF8

PHF8 — 308 ClinVar variants

All ClinVar germline PHF8 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 158 flagged for review →

17 Pathogenic · 3 Pathogenic/Likely pathogenic · 12 Likely pathogenic · 7 Conflicting · 5 Benign · 9 Benign/Likely benign · 78 Likely benign · 177 Uncertain significance

Full PHF8 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 158

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 2

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

Predicted LoF vs a conflicting call 3

ClinVar submitters conflict, and it's a predicted loss-of-function change in a gene where LoF causes disease — flagged for review, not resolved (verify NMD-escape for C-terminal truncations). Non-missense.

Predictors lean, ClinVar uncertain 113

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

Predictors split 40

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

All PHF8 variants

Pathogenic 17

  • p.Gln539Ter Multiple submitters
  • c.1141+5G>C Single submitter intellectual disability
  • p.Ala42fs Single submitter
  • p.Arg653Ter Single submitter
  • p.Arg65fs Single submitter
  • p.Gln905Ter Single submitter
  • p.Ile592fs Single submitter
  • p.Lys155fs Single submitter
  • p.Pro124fs Single submitter
  • p.Ser742fs Single submitter Inborn genetic diseases
  • c.943_946+8del No assertion criteria syndromic X-linked intellectual disability Siderius type
  • p.Arg211Ter No assertion criteria syndromic X-linked intellectual disability Siderius type
  • p.His247fs No assertion criteria syndromic X-linked intellectual disability Siderius type
  • p.Leu126fs No assertion criteria syndromic X-linked intellectual disability Siderius type
  • p.Lys177Ter No assertion criteria syndromic X-linked intellectual disability Siderius type
  • p.Lys627fs No assertion criteria syndromic X-linked intellectual disability Siderius type
  • p.Phe279Ser No assertion criteria syndromic X-linked intellectual disability Siderius type

Pathogenic/Likely pathogenic 3

  • p.Arg506Ter Multiple submitters Inborn genetic diseases
  • p.Arg753Ter Multiple submitters syndromic X-linked intellectual disability Siderius type
  • p.Ser737Ter Multiple submitters

Likely pathogenic 12

  • p.Arg240Ter Multiple submitters syndromic X-linked intellectual disability Siderius type
  • c.1324-2A>C Single submitter syndromic X-linked intellectual disability Siderius type
  • c.1995+1G>A Single submitter syndromic X-linked intellectual disability Siderius type
  • c.2129+1G>C Single submitter syndromic X-linked intellectual disability Siderius type
  • c.2444-2A>G Single submitter syndromic X-linked intellectual disability Siderius type
  • c.783+2del Single submitter PHF8-related disorder
  • p.Arg438Cys Single submitter
  • p.Arg589Ter Single submitter PHF8-related disorder
  • p.Gln886Ter Single submitter syndromic X-linked intellectual disability Siderius type
  • p.Leu819fs Single submitter syndromic X-linked intellectual disability Siderius type
  • p.Lys833fs Single submitter PHF8-related disorder
  • p.Pro826fs Single submitter

Conflicting classifications of pathogenicity 7

Benign 5

  • c.2650-35C>G Multiple submitters syndromic X-linked intellectual disability Siderius type
  • p.Asn202= Multiple submitters Inborn genetic diseases
  • p.Val147= Multiple submitters Inborn genetic diseases
  • c.-1G>A Single submitter
  • p.Thr136= Single submitter

Benign/Likely benign 9

Likely benign 78

Uncertain significance 177