Sugi Variant

Sugi Variant/ECM1

ECM1 — 178 ClinVar variants

All ClinVar germline ECM1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 94 flagged for review →

23 Pathogenic · 3 Pathogenic/Likely pathogenic · 9 Likely pathogenic · 1 Conflicting · 26 Benign · 4 Benign/Likely benign · 18 Likely benign · 94 Uncertain significance

Full ECM1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 94

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 56

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

Predictors split 37

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

All ECM1 variants

Pathogenic 23

Pathogenic/Likely pathogenic 3

Likely pathogenic 9

Conflicting classifications of pathogenicity 1

  • c.386-5T>G Single submitter Inborn genetic diseases

Benign 26

Benign/Likely benign 4

Likely benign 18

Uncertain significance 94