Sugi Variant

Sugi Variant/NLRP7

NLRP7 — 307 ClinVar variants

All ClinVar germline NLRP7 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 192 flagged for review →

16 Pathogenic · 3 Pathogenic/Likely pathogenic · 11 Likely pathogenic · 17 Conflicting · 14 Benign · 4 Benign/Likely benign · 34 Likely benign · 208 Uncertain significance

Full NLRP7 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 192

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 vs ClinVar 9

ClinVar calls these pathogenic, but the computational predictors lean tolerated — the highest-value review flag.

Predictors agree, ClinVar conflicts 9

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

Predictors lean, ClinVar uncertain 145

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

Predictors split 29

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

All NLRP7 variants

Pathogenic 16

  • p.Leu750Val Multiple submitters NLRP7-related disorder ⚠
  • p.Arg409Alafs Single submitter hydatidiform mole
  • p.Arg693Gln Single submitter hydatidiform mole, recurrent, 1 ⚠
  • p.Arg693Pro Single submitter hydatidiform mole, recurrent, 1
  • p.Arg693Trp Single submitter hydatidiform mole, recurrent, 1 ⚠
  • p.Arg721Trp Single submitter hydatidiform mole, recurrent, 1 ⚠
  • p.Gln358Ter Single submitter
  • p.Trp273Ter Single submitter hydatidiform mole, recurrent, 1
  • c.352+1G>A No assertion criteria hydatidiform mole, recurrent, 1
  • p.Arg432Ter No assertion criteria hydatidiform mole, recurrent, 1
  • p.Gly862Glu No assertion criteria hydatidiform mole, recurrent, 1
  • p.Leu398Arg No assertion criteria hydatidiform mole, recurrent, 1
  • p.Leu677Profs No assertion criteria hydatidiform mole, recurrent, 1
  • p.Lys619Asnfs No assertion criteria hydatidiform mole, recurrent, 1
  • p.Pro651Ser No assertion criteria hydatidiform mole, recurrent, 1 ⚠
  • p.Tyr318Cysfs No assertion criteria hydatidiform mole, recurrent, 1

Pathogenic/Likely pathogenic 3

  • c.2471+1G>A Multiple submitters hydatidiform mole, recurrent, 1
  • p.Glu113Glyfs Multiple submitters NLRP7-related disorder
  • p.Glu743Lys No assertion criteria oocyte/zygote/embryo maturation arrest 25 ⚠

Likely pathogenic 11

  • p.Asn913Ser Multiple submitters hydatidiform mole, recurrent, 1 ⚠
  • c.277+1G>A Single submitter hydatidiform mole, recurrent, 1
  • c.2811-2A>C Single submitter NLRP7-related disorder
  • p.Ala726Val Single submitter hydatidiform mole, recurrent, 1 ⚠
  • p.Arg937fs Single submitter NLRP7-related disorder
  • p.Gly740fs Single submitter hydatidiform mole, recurrent, 1
  • p.Pro103fs Single submitter NLRP7-related disorder
  • p.Pro716Ala Single submitter NLRP7-related disorder ⚠
  • p.Thr774Ilefs Single submitter hydatidiform mole, recurrent, 1
  • p.Ala420Thr No assertion criteria oocyte/zygote/embryo maturation arrest 25 ⚠
  • p.Pro775Ser No assertion criteria oocyte/zygote/embryo maturation arrest 25 ⚠

Conflicting classifications of pathogenicity 17

Benign 14

  • c.2129+6T>C Multiple submitters hydatidiform mole, recurrent, 1
  • c.2811-23A>G Multiple submitters hydatidiform mole
  • c.2811-25G>C Multiple submitters hydatidiform mole
  • c.-39-16C>T Multiple submitters hydatidiform mole
  • p.Ala481Thr Multiple submitters hydatidiform mole, recurrent, 1
  • p.Ala925= Multiple submitters hydatidiform mole, recurrent, 1
  • p.Gln130= Multiple submitters hydatidiform mole, recurrent, 1
  • p.Gly487Glu Multiple submitters hydatidiform mole, recurrent, 1
  • p.Ile497= Multiple submitters hydatidiform mole, recurrent, 1
  • p.Lys379= Multiple submitters hydatidiform mole, recurrent, 1
  • p.Tyr894= Multiple submitters hydatidiform mole
  • p.Val319Ile Multiple submitters hydatidiform mole, recurrent, 1
  • c.2300+17C>A Single submitter
  • p.Arg795Cys Single submitter hydatidiform mole, recurrent, 1

Benign/Likely benign 4

  • p.Ala902= Multiple submitters hydatidiform mole
  • p.Arg156Gln Multiple submitters hydatidiform mole, recurrent, 1
  • p.Asn73= Multiple submitters
  • p.Lys511Arg Multiple submitters hydatidiform mole, recurrent, 1

Likely benign 34

Uncertain significance 208