EIF3A — 179 ClinVar variants

All ClinVar germline EIF3A variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 165 flagged for review →

8 Benign · 1 Benign/Likely benign · 8 Likely benign · 162 Uncertain significance

Full EIF3A gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 165

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 54

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

Predictors split 111

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

All EIF3A variants

Benign 8

p.Ala1358= Multiple submitters
p.Arg803Lys Multiple submitters ⚠
p.Asp993Glu Multiple submitters ⚠
c.378-8C>G Single submitter
p.Arg1227= Single submitter
p.Lys388= Single submitter
p.Met1042Leu Single submitter
p.Thr805= Single submitter

Benign/Likely benign 1

p.Arg406= Multiple submitters

Likely benign 8

p.Arg1046Trp Multiple submitters ⚠
p.Ala1123= Single submitter
p.Arg959Trp Single submitter ⚠
p.Asn1008Ser Single submitter
p.Gln73= Single submitter
p.Gln79= Single submitter
p.Lys777Gln Single submitter ⚠
p.Val379= Single submitter

Uncertain significance 162

p.Ala1354Ser Single submitter ⚠
p.Ala181Gly Single submitter ⚠
p.Ala3Val Single submitter ⚠
p.Ala475Val Single submitter ⚠
p.Ala743Gly Single submitter ⚠
p.Ala832Thr Single submitter ⚠
p.Arg1000Gln Single submitter ⚠
p.Arg1006Gly Single submitter ⚠
p.Arg1010Cys Single submitter ⚠
p.Arg1030Ter Single submitter
p.Arg1040Cys Single submitter ⚠
p.Arg1040His Single submitter ⚠
p.Arg1061Cys Single submitter ⚠
p.Arg1061His Single submitter ⚠
p.Arg1067Trp Single submitter ⚠
p.Arg1071Gln Single submitter ⚠
p.Arg1077Trp Single submitter ⚠
p.Arg1090Gly Single submitter ⚠
p.Arg1091Gln Single submitter ⚠
p.Arg1097Gln Single submitter ⚠
p.Arg1097Trp Single submitter ⚠
p.Arg1131His Single submitter ⚠
p.Arg1147Cys Single submitter ⚠
p.Arg1160Trp Single submitter ⚠
p.Arg1201Cys Single submitter ⚠
p.Arg1201His Single submitter ⚠
p.Arg1238His Single submitter ⚠
p.Arg1264Cys Single submitter ⚠
p.Arg1264His Single submitter ⚠
p.Arg1270Lys Single submitter ⚠
p.Arg1273Cys Single submitter ⚠
p.Arg1273Gly Single submitter ⚠
p.Arg1273His Single submitter ⚠
p.Arg1273Ser Single submitter ⚠
p.Arg1275Cys Single submitter ⚠
p.Arg1277Lys Single submitter ⚠
p.Arg1280Trp Single submitter ⚠
p.Arg1304Cys Single submitter ⚠
p.Arg1320Trp Single submitter ⚠
p.Arg1324Trp Single submitter ⚠
p.Arg1328Ser Single submitter ⚠
p.Arg1343Gln Single submitter ⚠
p.Arg1345Gln Single submitter ⚠
p.Arg1362Thr Single submitter ⚠
p.Arg1366His Single submitter ⚠
p.Arg1367Cys Single submitter ⚠
p.Arg1367His Single submitter ⚠
p.Arg1382Cys Single submitter ⚠
p.Arg172His Single submitter ⚠
p.Arg353His Single submitter ⚠
p.Arg376Gly Single submitter ⚠
p.Arg438Cys Single submitter ⚠
p.Arg454His Single submitter ⚠
p.Arg469Trp Single submitter ⚠
p.Arg567Trp Single submitter ⚠
p.Arg763Gln Single submitter ⚠
p.Arg794Gln Single submitter ⚠
p.Arg826Trp Single submitter ⚠
p.Arg831Cys Single submitter ⚠
p.Arg831His Single submitter ⚠
p.Arg842Gln Single submitter ⚠
p.Arg872Lys Single submitter ⚠
p.Arg889Cys Single submitter ⚠
p.Arg889His Single submitter ⚠
p.Arg938Trp Single submitter ⚠
p.Arg939His Single submitter ⚠
p.Arg939Leu Single submitter ⚠
p.Arg956Trp Single submitter ⚠
p.Arg960Cys Single submitter ⚠
p.Arg969Gly Single submitter ⚠
p.Arg970Cys Single submitter ⚠
p.Arg970His Single submitter ⚠
p.Arg980Cys Single submitter ⚠
p.Arg980His Single submitter ⚠
p.Asn167Ser Single submitter ⚠
p.Asn200Ser Single submitter ⚠
p.Asn219Ser Single submitter ⚠
p.Asp1023Gly Single submitter ⚠
p.Asp1025Gly Single submitter ⚠
p.Asp1086His Single submitter ⚠
p.Asp1124Gly Single submitter ⚠
p.Asp1126Glu Single submitter ⚠
p.Asp1144Gly Single submitter ⚠
p.Asp1163Gly Single submitter ⚠
p.Asp1291Glu Single submitter ⚠
p.Asp1292Asn Single submitter ⚠
p.Asp88His Single submitter ⚠
p.Asp927Gly Single submitter ⚠
p.Asp954Asn Single submitter ⚠
p.Gln432Arg Single submitter ⚠
p.Gln441Leu Single submitter ⚠
p.Gln445Arg Single submitter ⚠
p.Gln860Glu Single submitter ⚠
p.Glu1187Lys Single submitter ⚠
p.Glu1255Gln Single submitter ⚠
p.Glu1305Lys Single submitter ⚠
p.Glu423Asp Single submitter ⚠
p.Glu741Ala Single submitter ⚠
p.Glu833Lys Single submitter ⚠
p.Glu840Asp Single submitter ⚠
p.Glu840Lys Single submitter ⚠
p.Glu874Ala Single submitter ⚠
p.Glu973Gln Single submitter ⚠
p.Gly1052Val Single submitter ⚠
p.Gly1082Val Single submitter ⚠
p.Gly1088Val Single submitter ⚠
p.Gly1246Ser Single submitter ⚠
p.Gly967Ser Single submitter ⚠
p.Gly971Ser Single submitter ⚠
p.His292Asp Single submitter ⚠
p.His510Tyr Single submitter ⚠
p.Ile177Thr Single submitter ⚠
p.Ile218Val Single submitter ⚠
p.Ile587Thr Single submitter ⚠
p.Ile695Val Single submitter ⚠
p.Leu1073Phe Single submitter ⚠
p.Leu1148Phe Single submitter ⚠
p.Leu1283Val Single submitter ⚠
p.Leu186Arg Single submitter ⚠
p.Leu424Met Single submitter ⚠
p.Leu582His Single submitter ⚠
p.Leu940Arg Single submitter ⚠
p.Lys886Met Single submitter ⚠
p.Met1083Ile Single submitter ⚠
p.Met1083Val Single submitter ⚠
p.Met1093Ile Single submitter ⚠
p.Met1103Ile Single submitter ⚠
p.Met111Thr Single submitter ⚠
p.Phe977Leu Single submitter ⚠
p.Pro1069Ser Single submitter ⚠
p.Pro1168Ser Single submitter ⚠
p.Pro1171Leu Single submitter ⚠
p.Pro1192Arg Single submitter ⚠
p.Pro1326Ser Single submitter ⚠
p.Pro1327Ser Single submitter ⚠
p.Pro266Leu Single submitter ⚠
p.Pro365Leu Single submitter ⚠
p.Pro460His Single submitter ⚠
p.Pro958Ser Single submitter ⚠
p.Pro998Ser Single submitter ⚠
p.Ser1262Ala Single submitter ⚠
p.Ser1302Pro Single submitter ⚠
p.Ser1364Cys Single submitter ⚠
p.Ser1364Phe Single submitter ⚠
p.Ser206Leu Single submitter ⚠
p.Ser453Cys Single submitter ⚠
p.Ser488Phe Single submitter ⚠
p.Ser492Gly Single submitter ⚠
p.Ser949Thr Single submitter ⚠
p.Thr1031Ile Single submitter ⚠
p.Thr137Ser Single submitter ⚠
p.Thr232Ser Single submitter ⚠
p.Thr435Ala Single submitter ⚠
p.Thr490Ala Single submitter ⚠
p.Trp413Cys Single submitter ⚠
p.Tyr157Ter Single submitter
p.Tyr697Cys Single submitter ⚠
p.Val170Ile Single submitter ⚠
p.Val349Gly Single submitter ⚠
p.Val349Ile Single submitter ⚠
p.Val472Ala Single submitter ⚠
p.Val771Leu Single submitter ⚠