Sugi Variant

Sugi Variant/FRMD5

FRMD5 — 123 ClinVar variants

All ClinVar germline FRMD5 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 76 flagged for review →

3 Pathogenic · 4 Likely pathogenic · 1 Conflicting · 2 Benign · 1 Benign/Likely benign · 16 Likely benign · 96 Uncertain significance

Full FRMD5 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 76

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 vs ClinVar 1

ClinVar calls these pathogenic, but the computational predictors lean tolerated — the highest-value review flag.

Predictors lean, ClinVar uncertain 50

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

Predictors split 25

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

All FRMD5 variants

Pathogenic 3

  • c.1135+1G>A Single submitter
  • p.Ser351Gly No assertion criteria neurodevelopmental disorder with eye movement abnormalities and ataxia
  • p.Ser354Pro No assertion criteria neurodevelopmental disorder with eye movement abnormalities and ataxia ⚠

Likely pathogenic 4

  • p.Arg316Leu Single submitter
  • p.Met346Thr Single submitter ⚠
  • p.Ser351Asn Single submitter neurodevelopmental disorder with eye movement abnormalities and ataxia
  • p.Ser375Phe Single submitter neurodevelopmental disorder with eye movement abnormalities and ataxia

Conflicting classifications of pathogenicity 1

  • p.Ser349Arg Single submitter neurodevelopmental disorder with eye movement abnormalities and ataxia ⚠

Benign 2

Benign/Likely benign 1

Likely benign 16

Uncertain significance 96