Sugi Variant

Sugi Variant/PIP5K1C

PIP5K1C — 283 ClinVar variants

All ClinVar germline PIP5K1C variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 116 flagged for review →

6 Pathogenic · 2 Likely pathogenic · 3 Conflicting · 54 Benign · 23 Benign/Likely benign · 68 Likely benign · 127 Uncertain significance

Full PIP5K1C gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 116

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 93

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

Predictors split 20

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

All PIP5K1C variants

Pathogenic 6

Likely pathogenic 2

  • p.Lys260fs Single submitter lethal congenital contracture syndrome 3
  • p.Tyr431Cys Single submitter PIP5K1C-related disorder

Conflicting classifications of pathogenicity 3

  • p.Val383Ala Single submitter lethal congenital contracture syndrome 3 ⚠
  • p.Glu146Lys No assertion criteria NEURODEVELOPMENTAL DISORDER WITH INTELLECTUAL, VISUAL, AND LANGUAGE IMPAIRMENT ⚠
  • p.Tyr205Cys No assertion criteria NEURODEVELOPMENTAL DISORDER WITH INTELLECTUAL, VISUAL, AND LANGUAGE IMPAIRMENT ⚠

Benign 54

Benign/Likely benign 23

Likely benign 68

Uncertain significance 127