NR5A2 — 59 ClinVar variants

All ClinVar germline NR5A2 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 50 flagged for review →

1 Conflicting · 2 Benign · 1 Benign/Likely benign · 4 Likely benign · 51 Uncertain significance

Full NR5A2 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 50

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 1

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

NR5A2 p.His227Gln Conflicting Single submitter
primary ovarian failure

Predictors lean, ClinVar uncertain 34

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

Predictors split 15

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

All NR5A2 variants

Conflicting classifications of pathogenicity 1

p.His227Gln Single submitter primary ovarian failure ⚠

Benign 2

p.Lys111= Multiple submitters
c.1230+29_1230+30dup Single submitter

Benign/Likely benign 1

p.Arg333Pro Multiple submitters ⚠

Likely benign 4

c.464-5A>C Multiple submitters
p.Asp27= Single submitter
p.Thr295Met Single submitter Anophthalmia-microphthalmia syndrome
p.Gln351Leu No assertion criteria long QT syndrome

Uncertain significance 51

p.Ala299Val Single submitter ⚠
p.Ala480Thr Single submitter ⚠
p.Arg137Cys Single submitter ⚠
p.Arg142His Single submitter ⚠
p.Arg267Trp Single submitter ⚠
p.Arg333Gln Single submitter ⚠
p.Arg446Leu Single submitter
p.Arg502Gln Single submitter ⚠
p.Arg507Gln Single submitter
p.Asn189His Single submitter ⚠
p.Asn523Ser Single submitter ⚠
p.Asp236Glu Single submitter ⚠
p.Asp236His Single submitter ⚠
p.Asp236Val Single submitter ⚠
p.Asp460Glu Single submitter ⚠
p.Cys381Arg Single submitter ⚠
p.Gln445Arg Single submitter ⚠
p.Glu315Lys Single submitter ⚠
p.Glu58Lys Single submitter ⚠
p.Glu64Gln Single submitter ⚠
p.Gly257Val Single submitter ⚠
p.Gly524Arg Single submitter ⚠
p.His252Gln Single submitter ⚠
p.His336Asp Single submitter ⚠
p.His336Pro Single submitter ⚠
p.Ile123Val Single submitter ⚠
p.Ile21Phe Single submitter ⚠
p.Ile269Val Single submitter ⚠
p.Ile533Thr Single submitter ⚠
p.Leu441Phe Single submitter ⚠
p.Leu52Pro Single submitter ⚠
p.Lys321Arg Single submitter ⚠
p.Met285Leu Single submitter ⚠
p.Met285Lys Single submitter ⚠
p.Met323Val Single submitter ⚠
p.Met66Val Single submitter ⚠
p.Pro224Ser Single submitter ⚠
p.Pro244Arg Single submitter ⚠
p.Pro265Ala Single submitter ⚠
p.Pro302Gln Single submitter ⚠
p.Pro43Leu Single submitter ⚠
p.Ser246Asn Single submitter ⚠
p.Ser266Cys Single submitter ⚠
p.Ser283Phe Single submitter ⚠
p.Ser31Tyr Single submitter ⚠
p.Ser363Asn Single submitter ⚠
p.Thr248Arg Single submitter
p.Tyr287His Single submitter ⚠
p.Val156Ile Single submitter ⚠
p.Val40Ile Single submitter ⚠
p.Val435Ala Single submitter ⚠