SENP7 — 119 ClinVar variants

All ClinVar germline SENP7 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 97 flagged for review →

1 Pathogenic · 2 Likely pathogenic · 5 Benign · 1 Benign/Likely benign · 12 Likely benign · 98 Uncertain significance

Full SENP7 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 97

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 91

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

Predictors split 6

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

All SENP7 variants

Pathogenic 1

p.Gln325Ter Single submitter SENP7-associated disorder

Likely pathogenic 2

p.Arg1030Trp Single submitter Arthrogryposis Multiplex Congenita and Immunodeficiency
p.Gln492Ter Single submitter arthrogryposis multiplex congenita with neutropenia and early respiratory failure

Benign 5

p.Asp637Tyr Multiple submitters
p.Gln241His Multiple submitters
p.Ser134= Multiple submitters
p.Thr242Ser Multiple submitters
c.284+6A>C Single submitter

Benign/Likely benign 1

p.Asn308Ser Multiple submitters

Likely benign 12

p.Ala243Val Single submitter
p.Arg153His Single submitter
p.Arg249Gln Single submitter
p.Arg904His Single submitter
p.Asp595Asn Single submitter
p.Cys683Tyr Single submitter
p.Ile402Thr Single submitter
p.Pro342Ser Single submitter
p.Ser858= Single submitter
p.Thr640Met Single submitter
p.Thr706Ile Single submitter
p.Thr88Ala Single submitter

Uncertain significance 98

p.Ala708Val Single submitter ⚠
p.Arg1023Cys Single submitter
p.Arg119Gly Single submitter ⚠
p.Arg305Ser Single submitter ⚠
p.Arg630Gly Single submitter ⚠
p.Arg904Cys Single submitter ⚠
p.Arg969Cys Single submitter ⚠
p.Asn128Lys Single submitter ⚠
p.Asn169Asp Single submitter ⚠
p.Asn214Thr Single submitter ⚠
p.Asn268Asp Single submitter ⚠
p.Asn268Ser Single submitter ⚠
p.Asn847Ser Single submitter ⚠
p.Asp194Glu Single submitter ⚠
p.Asp412Asn Single submitter ⚠
p.Asp595Tyr Single submitter ⚠
p.Asp895Asn Single submitter ⚠
p.Asp900Ala Single submitter ⚠
p.Cys146Arg Single submitter ⚠
p.Cys723Arg Single submitter ⚠
p.Gln464Pro Single submitter ⚠
p.Gln492Arg Single submitter ⚠
p.Gln702Lys Single submitter ⚠
p.Gln881Arg Single submitter ⚠
p.Gln986Arg Single submitter ⚠
p.Glu1035Asp Single submitter ⚠
p.Glu278Lys Single submitter ⚠
p.Glu30Val Single submitter ⚠
p.Glu324Gly Single submitter ⚠
p.Glu330Asp Single submitter ⚠
p.Glu355Lys Single submitter ⚠
p.Glu392Lys Single submitter ⚠
p.Glu557Gly Single submitter ⚠
p.Glu64Asp Single submitter ⚠
p.Gly273Ala Single submitter ⚠
p.Gly538Ser Single submitter ⚠
p.His580Leu Single submitter ⚠
p.His606Arg Single submitter ⚠
p.His741Leu Single submitter ⚠
p.His81Asp Single submitter ⚠
p.Ile1026Met Single submitter ⚠
p.Ile166Thr Single submitter ⚠
p.Ile419Thr Single submitter ⚠
p.Ile510Val Single submitter ⚠
p.Ile523Met Single submitter ⚠
p.Ile638Val Single submitter ⚠
p.Ile728Val Single submitter ⚠
p.Ile789Thr Single submitter ⚠
p.Ile82Thr Single submitter ⚠
p.Leu28Phe Single submitter ⚠
p.Leu28Ser Single submitter ⚠
p.Leu655Phe Single submitter ⚠
p.Leu826Val Single submitter ⚠
p.Leu903Ile Single submitter ⚠
p.Lys3Gln Single submitter ⚠
p.Lys50Thr Single submitter ⚠
p.Lys531Gln Single submitter ⚠
p.Lys5Arg Single submitter ⚠
p.Lys696Arg Single submitter ⚠
p.Met493Arg Single submitter ⚠
p.Met511Val Single submitter ⚠
p.Met516Thr Single submitter ⚠
p.Met923Ile Single submitter ⚠
p.Pro350Ala Single submitter ⚠
p.Pro499Gln Single submitter ⚠
p.Pro654Leu Single submitter ⚠
p.Pro93Ser Single submitter ⚠
p.Ser137Leu Single submitter ⚠
p.Ser155Arg Single submitter ⚠
p.Ser208Gly Single submitter ⚠
p.Ser224Phe Single submitter ⚠
p.Ser231Gly Single submitter ⚠
p.Ser269Asn Single submitter ⚠
p.Ser299Pro Single submitter ⚠
p.Ser363Asn Single submitter ⚠
p.Ser474Arg Single submitter ⚠
p.Ser508Tyr Single submitter ⚠
p.Ser616Cys Single submitter ⚠
p.Ser668Pro Single submitter ⚠
p.Ser907Leu Single submitter ⚠
p.Ser91Leu Single submitter ⚠
p.Ser940Phe Single submitter ⚠
p.Ser945Cys Single submitter ⚠
p.Thr102Lys Single submitter ⚠
p.Thr102Met Single submitter ⚠
p.Thr138Lys Single submitter ⚠
p.Thr145Ile Single submitter ⚠
p.Thr17Arg Single submitter ⚠
p.Thr742Ala Single submitter ⚠
p.Thr742Pro Single submitter ⚠
p.Thr898Ile Single submitter ⚠
p.Trp63Cys Single submitter ⚠
p.Tyr784His Single submitter ⚠
p.Val130Leu Single submitter ⚠
p.Val185Ala Single submitter ⚠
p.Val409Asp Single submitter ⚠
p.Val689Ile Single submitter ⚠
p.Val963Leu Single submitter ⚠