Sugi Variant

Sugi Variant/ATP6V1C2

ATP6V1C2 — 71 ClinVar variants

All ClinVar germline ATP6V1C2 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 62 flagged for review →

1 Likely pathogenic · 1 Conflicting · 2 Benign · 2 Likely benign · 65 Uncertain significance

Full ATP6V1C2 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 62

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 51

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 ATP6V1C2 variants

Likely pathogenic 1

Conflicting classifications of pathogenicity 1

Benign 2

Likely benign 2

Uncertain significance 65