PITHD1 — 10 ClinVar variants
All ClinVar germline PITHD1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 10 flagged for review →
10 Uncertain significance
Full PITHD1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 10
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 lean, ClinVar uncertain 9
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- PITHD1 p.Arg145His Uncertain significance Single submitter
- PITHD1 p.Arg52Leu Uncertain significance Single submitter
- PITHD1 p.Asn188Ser Uncertain significance Single submitter
- PITHD1 p.Gly161Arg Uncertain significance Single submitter
- PITHD1 p.Gly53Ser Uncertain significance Single submitter
- PITHD1 p.His201Arg Uncertain significance Single submitter
- PITHD1 p.His208Arg Uncertain significance Single submitter
- PITHD1 p.Pro195Ala Uncertain significance Single submitter
- PITHD1 p.Val200Asp Uncertain significance Single submitter
Predictors split 1
The independent predictors disagree with each other — read with care.
All PITHD1 variants
Uncertain significance 10
- p.Arg145His Single submitter ⚠
- p.Arg180Cys Single submitter ⚠
- p.Arg52Leu Single submitter ⚠
- p.Asn188Ser Single submitter ⚠
- p.Gly161Arg Single submitter ⚠
- p.Gly53Ser Single submitter ⚠
- p.His201Arg Single submitter ⚠
- p.His208Arg Single submitter ⚠
- p.Pro195Ala Single submitter ⚠
- p.Val200Asp Single submitter ⚠