Sugi Variant

Sugi Variant/PTCHD1

PTCHD1 — 339 ClinVar variants

All ClinVar germline PTCHD1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 208 flagged for review →

5 Pathogenic · 26 Likely pathogenic · 15 Conflicting · 14 Benign · 9 Benign/Likely benign · 49 Likely benign · 221 Uncertain significance

Full PTCHD1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 208

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 8

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

Predicted LoF vs a conflicting call 1

ClinVar submitters conflict, and it's a predicted loss-of-function change in a gene where LoF causes disease — flagged for review, not resolved (verify NMD-escape for C-terminal truncations). Non-missense.

Predictors lean, ClinVar uncertain 137

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

Predictors split 62

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

All PTCHD1 variants

Pathogenic 5

Likely pathogenic 26

Conflicting classifications of pathogenicity 15

Benign 14

Benign/Likely benign 9

Likely benign 49

Uncertain significance 221