SHARPIN — 68 ClinVar variants

All ClinVar germline SHARPIN variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 56 flagged for review →

3 Pathogenic · 2 Benign · 1 Benign/Likely benign · 4 Likely benign · 58 Uncertain significance

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

⚑ Evidence disagreements 56

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 44

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

Predictors split 12

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

All SHARPIN variants

Pathogenic 3

p.His247fs Single submitter Sharpin-related autoinflammatory syndrome
p.Leu205fs No assertion criteria autoinflammation with episodic fever and immune dysregulation
p.Leu74fs No assertion criteria autoinflammation with episodic fever and immune dysregulation

Benign 2

p.Pro294Ser Multiple submitters
c.517+9G>T Single submitter

Benign/Likely benign 1

p.Arg365His Multiple submitters

Likely benign 4

p.Ala231= Single submitter
p.Ala234Thr Single submitter
p.Arg181Gln Single submitter
p.Arg289Gln Single submitter

Uncertain significance 58

p.Ala184Pro Single submitter ⚠
p.Ala184Thr Single submitter ⚠
p.Ala212Asp Single submitter ⚠
p.Ala231Thr Single submitter ⚠
p.Ala235Val Single submitter ⚠
p.Ala295Gly Single submitter ⚠
p.Ala306Ser Single submitter ⚠
p.Arg164Ser Single submitter ⚠
p.Arg181Trp Single submitter ⚠
p.Arg269Cys Single submitter ⚠
p.Arg269His Single submitter ⚠
p.Arg281His Single submitter ⚠
p.Arg325Cys Single submitter ⚠
p.Asn69Lys Single submitter ⚠
p.Asp161Glu Single submitter ⚠
p.Asp161Tyr Single submitter ⚠
p.Asp291Tyr Single submitter ⚠
p.Cys213Ser Single submitter ⚠
p.Cys248Tyr Single submitter ⚠
p.Cys354Tyr Single submitter ⚠
p.Gln193Glu Single submitter ⚠
p.Gln86His Single submitter ⚠
p.Glu138Asp Single submitter ⚠
p.Glu138Gln Single submitter ⚠
p.Glu149Lys Single submitter ⚠
p.Glu171Asp Single submitter ⚠
p.Gly118Val Single submitter ⚠
p.Gly167Glu Single submitter ⚠
p.Gly190Arg Single submitter ⚠
p.Gly217Asp Single submitter ⚠
p.Gly262Ser Single submitter
p.Gly321Arg Single submitter ⚠
p.Gly97Ala Single submitter ⚠
p.His102Gln Single submitter ⚠
p.His245Arg Single submitter ⚠
p.His315Gln Single submitter ⚠
p.Ile183Val Single submitter ⚠
p.Leu162Phe Single submitter ⚠
p.Leu179Val Single submitter ⚠
p.Leu297Val Single submitter ⚠
p.Leu348Phe Single submitter ⚠
p.Lys128Glu Single submitter ⚠
p.Phe103Leu Single submitter ⚠
p.Pro141Leu Single submitter ⚠
p.Pro147Arg Single submitter ⚠
p.Pro215Leu Single submitter ⚠
p.Pro215Ser Single submitter ⚠
p.Pro328Leu Single submitter ⚠
p.Pro366Arg Single submitter ⚠
p.Pro93Ser Single submitter ⚠
p.Ser129Asn Single submitter ⚠
p.Ser236Phe Single submitter ⚠
p.Thr373Ile Single submitter ⚠
p.Trp379Cys Single submitter ⚠
p.Val142Ile Single submitter ⚠
p.Val203Met Single submitter ⚠
p.Val267Met Single submitter
p.Val288Leu Single submitter ⚠