Sugi Variant

Sugi Variant/ISCA1

ISCA1 — 40 ClinVar variants

All ClinVar germline ISCA1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 18 flagged for review →

1 Pathogenic · 1 Conflicting · 3 Benign · 19 Likely benign · 16 Uncertain significance

Full ISCA1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 18

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 agree, ClinVar conflicts 1

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

Predictors lean, ClinVar uncertain 7

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

Predictors split 9

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

All ISCA1 variants

Pathogenic 1

  • p.Val10Gly No assertion criteria multiple mitochondrial dysfunctions syndrome 5 ⚠

Conflicting classifications of pathogenicity 1

  • p.Glu87Lys Single submitter multiple mitochondrial dysfunctions syndrome 5 ⚠

Benign 3

Likely benign 19

Uncertain significance 16