TRPA1 — 219 ClinVar variants

All ClinVar germline TRPA1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 121 flagged for review →

6 Conflicting · 23 Benign · 2 Benign/Likely benign · 60 Likely benign · 128 Uncertain significance

Full TRPA1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 121

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 4

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

Predictors lean, ClinVar uncertain 95

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

All TRPA1 variants

Conflicting classifications of pathogenicity 6

Benign 23

  • c.1530-22T>C Multiple submitters familial episodic pain syndrome with predominantly upper body involvement
  • c.1644+15C>T Multiple submitters familial episodic pain syndrome with predominantly upper body involvement
  • c.1905+28C>T Multiple submitters familial episodic pain syndrome with predominantly upper body involvement
  • c.2869-6C>A Multiple submitters familial episodic pain syndrome with predominantly upper body involvement
  • c.2938-24C>G Multiple submitters familial episodic pain syndrome with predominantly upper body involvement
  • c.2938-49T>G Multiple submitters familial episodic pain syndrome with predominantly upper body involvement
  • p.Asn125= Multiple submitters familial episodic pain syndrome with predominantly upper body involvement
  • p.His1018Arg Multiple submitters familial episodic pain syndrome with predominantly upper body involvement
  • p.Leu544= Multiple submitters familial episodic pain syndrome with predominantly upper body involvement
  • p.Lys186Asn Multiple submitters familial episodic pain syndrome with predominantly upper body involvement
  • p.Val299Met Multiple submitters
  • p.Arg3Cys Single submitter
  • p.Arg58Thr Single submitter
  • p.Arg996Cys Single submitter ⚠
  • p.Asn373Ile Single submitter
  • p.Gly962= Single submitter
  • c.1195-8del No assertion criteria TRPA1-related disorder
  • c.1812-3C>T No assertion criteria TRPA1-related disorder
  • p.Arg228= No assertion criteria TRPA1-related disorder
  • p.Asn128= No assertion criteria TRPA1-related disorder
  • p.Glu179Lys No assertion criteria TRPA1-related disorder
  • p.Leu830= No assertion criteria TRPA1-related disorder
  • p.Thr814= No assertion criteria TRPA1-related disorder

Benign/Likely benign 2

Likely benign 60

Uncertain significance 128