SPAG5 — 164 ClinVar variants

All ClinVar germline SPAG5 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 138 flagged for review →

1 Benign · 24 Likely benign · 139 Uncertain significance

Full SPAG5 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 138

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 129

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

Predictors split 9

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

All SPAG5 variants

Benign 1

p.Lys946= Single submitter

Likely benign 24

p.Gly123Asp Multiple submitters
p.Ala255= Single submitter
p.Ala580Val Single submitter
p.Arg148His Single submitter
p.Arg229His Single submitter
p.Arg229Pro Single submitter
p.Arg450His Single submitter
p.Arg537Gln Single submitter
p.Arg538His Single submitter
p.Arg607Gln Single submitter
p.Arg661Gln Single submitter
p.Arg663Gln Single submitter
p.Arg723Gln Single submitter
p.Arg797Gln Single submitter
p.Asn1107Ser Single submitter
p.Gln451= Single submitter
p.Glu172Lys Single submitter
p.Ile105Val Single submitter
p.Ile108Thr Single submitter
p.Leu312Pro Single submitter
p.Met1104Val Single submitter
p.Pro44= Single submitter
p.Ser289Ala Single submitter
p.Thr114Met Single submitter

Uncertain significance 139

p.Met1129Lys Multiple submitters ⚠
c.3354+1G>A Single submitter
p.Ala1025Thr Single submitter ⚠
p.Ala175Val Single submitter ⚠
p.Ala187Val Single submitter ⚠
p.Ala239Thr Single submitter ⚠
p.Ala255Thr Single submitter ⚠
p.Ala295Pro Single submitter ⚠
p.Ala320Thr Single submitter ⚠
p.Ala428Thr Single submitter ⚠
p.Ala496Val Single submitter ⚠
p.Ala592Thr Single submitter ⚠
p.Ala676Asp Single submitter ⚠
p.Ala783Glu Single submitter ⚠
p.Ala928Glu Single submitter ⚠
p.Arg1037His Single submitter ⚠
p.Arg1077Cys Single submitter ⚠
p.Arg1077His Single submitter ⚠
p.Arg1080Gln Single submitter ⚠
p.Arg1080Trp Single submitter ⚠
p.Arg1081His Single submitter ⚠
p.Arg1180Thr Single submitter ⚠
p.Arg229Cys Single submitter ⚠
p.Arg259His Single submitter ⚠
p.Arg278Gly Single submitter ⚠
p.Arg281Lys Single submitter ⚠
p.Arg360Cys Single submitter ⚠
p.Arg370Trp Single submitter ⚠
p.Arg450Cys Single submitter ⚠
p.Arg450Leu Single submitter ⚠
p.Arg595Cys Single submitter ⚠
p.Arg717Cys Single submitter ⚠
p.Arg723Trp Single submitter ⚠
p.Arg832Trp Single submitter ⚠
p.Arg834Cys Single submitter ⚠
p.Asn63Ser Single submitter ⚠
p.Asp168Asn Single submitter ⚠
p.Asp77Gly Single submitter ⚠
p.Asp858Gly Single submitter ⚠
p.Cys1035Arg Single submitter ⚠
p.Cys984Phe Single submitter ⚠
p.Gln1045His Single submitter ⚠
p.Gln1049Lys Single submitter ⚠
p.Gln141His Single submitter ⚠
p.Gln294His Single submitter ⚠
p.Gln361Arg Single submitter ⚠
p.Gln417Glu Single submitter ⚠
p.Gln627Lys Single submitter ⚠
p.Gln675Glu Single submitter ⚠
p.Gln678Arg Single submitter ⚠
p.Gln788Lys Single submitter ⚠
p.Gln880Lys Single submitter ⚠
p.Gln898Arg Single submitter ⚠
p.Gln988His Single submitter ⚠
p.Glu1004Lys Single submitter ⚠
p.Glu1128Gln Single submitter ⚠
p.Glu1157Lys Single submitter ⚠
p.Glu173Lys Single submitter ⚠
p.Glu226Asp Single submitter ⚠
p.Glu416Gln Single submitter ⚠
p.Glu60Asp Single submitter ⚠
p.Glu685Ala Single submitter ⚠
p.Glu865Asp Single submitter ⚠
p.Glu879Lys Single submitter ⚠
p.Glu962Asp Single submitter ⚠
p.Glu99Lys Single submitter ⚠
p.Gly179Ala Single submitter ⚠
p.Gly18Arg Single submitter ⚠
p.Gly57Arg Single submitter ⚠
p.Gly875Glu Single submitter ⚠
p.His215Arg Single submitter ⚠
p.His814Tyr Single submitter ⚠
p.Ile1027Leu Single submitter ⚠
p.Ile1048Thr Single submitter ⚠
p.Ile1059Thr Single submitter ⚠
p.Ile510Thr Single submitter ⚠
p.Ile995Phe Single submitter ⚠
p.Leu405Pro Single submitter ⚠
p.Leu448His Single submitter ⚠
p.Leu522Val Single submitter ⚠
p.Leu542Ser Single submitter ⚠
p.Leu575Phe Single submitter ⚠
p.Leu612His Single submitter ⚠
p.Leu669Pro Single submitter ⚠
p.Leu78Val Single submitter ⚠
p.Lys626Thr Single submitter ⚠
p.Lys794Glu Single submitter ⚠
p.Lys946Arg Single submitter ⚠
p.Met1125Val Single submitter ⚠
p.Met1137Val Single submitter ⚠
p.Met178Arg Single submitter ⚠
p.Met732Val Single submitter ⚠
p.Met776Ile Single submitter ⚠
p.Met976Val Single submitter ⚠
p.Phe609Ser Single submitter ⚠
p.Pro106Arg Single submitter ⚠
p.Pro1176Ala Single submitter ⚠
p.Pro198Leu Single submitter ⚠
p.Pro265Thr Single submitter ⚠
p.Pro44Arg Single submitter ⚠
p.Pro67Ser Single submitter ⚠
p.Ser14Pro Single submitter ⚠
p.Ser217Phe Single submitter ⚠
p.Ser217Pro Single submitter ⚠
p.Ser21Tyr Single submitter ⚠
p.Ser220Gly Single submitter ⚠
p.Ser220Thr Single submitter ⚠
p.Ser223Arg Single submitter ⚠
p.Ser243Tyr Single submitter ⚠
p.Ser317Pro Single submitter ⚠
p.Ser367Leu Single submitter ⚠
p.Ser490Arg Single submitter ⚠
p.Ser533Asn Single submitter ⚠
p.Ser533Cys Single submitter ⚠
p.Ser636Asn Single submitter ⚠
p.Ser65Leu Single submitter ⚠
p.Ser698Phe Single submitter ⚠
p.Ser716Cys Single submitter ⚠
p.Ser734Gly Single submitter ⚠
p.Ser763Gly Single submitter ⚠
p.Thr1076Ala Single submitter ⚠
p.Thr400Ala Single submitter ⚠
p.Thr466Ile Single submitter ⚠
p.Thr618Ile Single submitter ⚠
p.Thr844Ile Single submitter ⚠
p.Thr855Ala Single submitter ⚠
p.Thr867Pro Single submitter ⚠
p.Thr963Asn Single submitter ⚠
p.Trp1114Arg Single submitter ⚠
p.Trp2Ser Single submitter ⚠
p.Val1124Ala Single submitter ⚠
p.Val1124Leu Single submitter ⚠
p.Val1124Met Single submitter ⚠
p.Val131Ile Single submitter ⚠
p.Val270Ile Single submitter ⚠
p.Val354Leu Single submitter ⚠
p.Val443Leu Single submitter ⚠
p.Val71Ile Single submitter ⚠
p.Val796Met Single submitter ⚠