STT3B — 199 ClinVar variants
All ClinVar germline STT3B variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 81 flagged for review →
1 Pathogenic · 2 Conflicting · 29 Benign · 6 Benign/Likely benign · 76 Likely benign · 85 Uncertain significance
Full STT3B gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 81
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 2
ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.
-
STT3B p.Ala521Val
Conflicting
Single submitter
STT3B-congenital disorder of glycosylation
-
STT3B p.Ile299Val
Conflicting
Single submitter
STT3B-congenital disorder of glycosylation
Predictors lean, ClinVar uncertain 64
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- STT3B p.Ala644Ser Uncertain significance Multiple submitters
-
STT3B p.Ala774Thr
Uncertain significance
Multiple submitters
STT3B-congenital disorder of glycosylation
-
STT3B p.Asn789Ser
Uncertain significance
Multiple submitters
STT3B-congenital disorder of glycosylation
-
STT3B p.Ser358Leu
Uncertain significance
Multiple submitters
STT3B-congenital disorder of glycosylation
-
STT3B p.Val164Ile
Uncertain significance
Multiple submitters
STT3B-congenital disorder of glycosylation
-
STT3B p.Ala150Ser
Uncertain significance
Single submitter
STT3B-congenital disorder of glycosylation
-
STT3B p.Ala201Thr
Uncertain significance
Single submitter
STT3B-congenital disorder of glycosylation
- STT3B p.Ala599Val Uncertain significance Single submitter
- STT3B p.Ala774Val Uncertain significance Single submitter
-
STT3B p.Arg129Ser
Uncertain significance
Single submitter
STT3B-congenital disorder of glycosylation
- STT3B p.Arg285Thr Uncertain significance Single submitter
- STT3B p.Arg341Gly Uncertain significance Single submitter
- STT3B p.Arg343Gln Uncertain significance Single submitter
-
STT3B p.Arg691Gln
Uncertain significance
Single submitter
STT3B-congenital disorder of glycosylation
- STT3B p.Arg806His Uncertain significance Single submitter
- STT3B p.Asn124Asp Uncertain significance Single submitter
- STT3B p.Asn194Asp Uncertain significance Single submitter
-
STT3B p.Asn271Ser
Uncertain significance
Single submitter
STT3B-congenital disorder of glycosylation
- STT3B p.Asn573Asp Uncertain significance Single submitter
-
STT3B p.Asp103Tyr
Uncertain significance
Single submitter
STT3B-congenital disorder of glycosylation
- STT3B p.Cys253Gly Uncertain significance Single submitter
-
STT3B p.Gln338His
Uncertain significance
Single submitter
STT3B-congenital disorder of glycosylation
-
STT3B p.Glu529Asp
Uncertain significance
Single submitter
STT3B-congenital disorder of glycosylation
- STT3B p.Gly264Cys Uncertain significance Single submitter
-
STT3B p.Gly613Arg
Uncertain significance
Single submitter
STT3B-congenital disorder of glycosylation
-
STT3B p.His783Gln
Uncertain significance
Single submitter
STT3B-congenital disorder of glycosylation
-
STT3B p.Ile166Val
Uncertain significance
Single submitter
STT3B-congenital disorder of glycosylation
- STT3B p.Ile207Thr Uncertain significance Single submitter
-
STT3B p.Ile207Val
Uncertain significance
Single submitter
STT3B-congenital disorder of glycosylation
- STT3B p.Ile225Val Uncertain significance Single submitter
- STT3B p.Ile433Leu Uncertain significance Single submitter
-
STT3B p.Ile448Val
Uncertain significance
Single submitter
STT3B-congenital disorder of glycosylation
-
STT3B p.Ile538Val
Uncertain significance
Single submitter
STT3B-congenital disorder of glycosylation
- STT3B p.Ile790Val Uncertain significance Single submitter
- STT3B p.Ile93Val Uncertain significance Single submitter
- STT3B p.Leu813Gln Uncertain significance Single submitter
- STT3B p.Leu813Val Uncertain significance Single submitter
- STT3B p.Lys346Glu Uncertain significance Single submitter
- STT3B p.Lys536Arg Uncertain significance Single submitter
-
STT3B p.Lys793Thr
Uncertain significance
Single submitter
STT3B-congenital disorder of glycosylation
- STT3B p.Lys812Asn Uncertain significance Single submitter
-
STT3B p.Lys817Glu
Uncertain significance
Single submitter
STT3B-congenital disorder of glycosylation
- STT3B p.Met250Val Uncertain significance Single submitter
- STT3B p.Phe257Leu Uncertain significance Single submitter
- STT3B p.Phe550Cys Uncertain significance Single submitter
- STT3B p.Pro19Leu Uncertain significance Single submitter
- STT3B p.Pro698Ser Uncertain significance Single submitter
- STT3B p.Ser17Leu Uncertain significance Single submitter
- STT3B p.Ser287Asn Uncertain significance Single submitter
- STT3B p.Ser822Cys Uncertain significance Single submitter
-
STT3B p.Thr296Ser
Uncertain significance
Single submitter
STT3B-congenital disorder of glycosylation
- STT3B p.Thr788Ala Uncertain significance Single submitter
- STT3B p.Tyr256Cys Uncertain significance Single submitter
- STT3B p.Tyr298Cys Uncertain significance Single submitter
- STT3B p.Tyr718Cys Uncertain significance Single submitter
- STT3B p.Val169Ile Uncertain significance Single submitter
- STT3B p.Val169Leu Uncertain significance Single submitter
- STT3B p.Val241Ile Uncertain significance Single submitter
- STT3B p.Val279Leu Uncertain significance Single submitter
-
STT3B p.Val300Ala
Uncertain significance
Single submitter
STT3B-congenital disorder of glycosylation
- STT3B p.Val467Ala Uncertain significance Single submitter
- STT3B p.Val495Leu Uncertain significance Single submitter
- STT3B p.Val657Leu Uncertain significance Single submitter
- STT3B p.Val814Leu Uncertain significance Single submitter
Predictors split 15
The independent predictors disagree with each other — read with care.
- STT3B p.Arg440Lys Uncertain significance Single submitter
-
STT3B p.Arg650Gly
Uncertain significance
Single submitter
STT3B-congenital disorder of glycosylation
-
STT3B p.Arg691Trp
Uncertain significance
Single submitter
STT3B-congenital disorder of glycosylation
- STT3B p.Gly84Ser Uncertain significance Single submitter
- STT3B p.Ile183Met Uncertain significance Single submitter
-
STT3B p.Ile205Val
Uncertain significance
Single submitter
STT3B-congenital disorder of glycosylation
- STT3B p.Ile648Val Uncertain significance Single submitter
-
STT3B p.Met614Ile
Uncertain significance
Single submitter
STT3B-congenital disorder of glycosylation
-
STT3B p.Phe354Leu
Uncertain significance
Single submitter
STT3B-congenital disorder of glycosylation
- STT3B p.Ser116Cys Uncertain significance Single submitter
- STT3B p.Ser116Phe Uncertain significance Single submitter
- STT3B p.Ser709Pro Uncertain significance Single submitter
- STT3B p.Thr111Ala Uncertain significance Single submitter
- STT3B p.Thr189Ala Uncertain significance Single submitter
-
STT3B p.Val368Phe
Uncertain significance
Single submitter
STT3B-congenital disorder of glycosylation
All STT3B variants
Pathogenic 1
- c.1539+20G>T No assertion criteria STT3B-congenital disorder of glycosylation
Conflicting classifications of pathogenicity 2
- p.Ala521Val Single submitter STT3B-congenital disorder of glycosylation ⚠
- p.Ile299Val Single submitter STT3B-congenital disorder of glycosylation ⚠
Benign 29
- c.1327+21A>C Multiple submitters
- c.2073+14T>C Multiple submitters STT3B-congenital disorder of glycosylation
- c.2400+129G>A Multiple submitters
- c.2401-44A>G Multiple submitters
- c.2401-81T>G Multiple submitters
- c.314+252A>G Multiple submitters
- c.777+39G>C Multiple submitters
- c.777+7T>G Multiple submitters STT3B-congenital disorder of glycosylation
- c.778-17C>A Multiple submitters STT3B-congenital disorder of glycosylation
- c.877+86A>T Multiple submitters
- p.Thr159= Multiple submitters STT3B-congenital disorder of glycosylation
- p.Thr802= Multiple submitters STT3B-congenital disorder of glycosylation
- c.1123+125_1123+126dup Single submitter
- c.1123+126dup Single submitter
- c.1172+274T>C Single submitter
- c.1172+301_1172+302insCCTAACATA Single submitter
- c.1328-72_1328-71insGTGGT Single submitter
- c.1728-140del Single submitter
- c.1900-155A>G Single submitter
- c.2188-250del Single submitter
- c.2188-251_2188-250del Single submitter
- c.2188-265T>G Single submitter
- c.2401-5dup Single submitter STT3B-congenital disorder of glycosylation
- c.315-163G>A Single submitter
- c.315-192G>T Single submitter
- c.424-109del Single submitter
- c.424-287A>G Single submitter
- c.424-73_424-72insAAA Single submitter
- c.712-3dup Single submitter STT3B-congenital disorder of glycosylation
Benign/Likely benign 6
- c.1172+15A>G Multiple submitters STT3B-congenital disorder of glycosylation
- c.2401-17G>T Multiple submitters STT3B-congenital disorder of glycosylation
- p.Ala774= Multiple submitters STT3B-congenital disorder of glycosylation
- p.Asn124= Multiple submitters STT3B-congenital disorder of glycosylation
- p.Gly47= Multiple submitters STT3B-congenital disorder of glycosylation
- p.Tyr588= Multiple submitters STT3B-congenital disorder of glycosylation
Likely benign 76
- c.1328-113C>T Multiple submitters
- c.1728-18T>C Multiple submitters STT3B-congenital disorder of glycosylation
- c.1728-49C>A Multiple submitters
- c.1899+15_1899+16del Multiple submitters STT3B-congenital disorder of glycosylation
- c.1900-11A>T Multiple submitters STT3B-congenital disorder of glycosylation
- c.2073+13A>G Multiple submitters STT3B-congenital disorder of glycosylation
- c.315-4C>G Multiple submitters STT3B-congenital disorder of glycosylation
- c.976+14A>G Multiple submitters STT3B-congenital disorder of glycosylation
- p.Asn623= Multiple submitters STT3B-congenital disorder of glycosylation
- p.Phe725= Multiple submitters STT3B-congenital disorder of glycosylation
- p.Pro309= Multiple submitters
- p.Pro466= Multiple submitters STT3B-congenital disorder of glycosylation
- c.1123+126del Single submitter
- c.1123+207C>G Single submitter
- c.1124-17A>G Single submitter STT3B-congenital disorder of glycosylation
- c.1172+9A>C Single submitter STT3B-congenital disorder of glycosylation
- c.1327+10G>A Single submitter
- c.1327+15T>G Single submitter STT3B-congenital disorder of glycosylation
- c.1327+99A>G Single submitter
- c.1539+15G>A Single submitter STT3B-congenital disorder of glycosylation
- c.1727+15C>T Single submitter STT3B-congenital disorder of glycosylation
- c.1727+216G>A Single submitter
- c.1900-10A>T Single submitter
- c.1900-12T>A Single submitter STT3B-congenital disorder of glycosylation
- c.1900-138A>G Single submitter
- c.1900-17T>G Single submitter
- c.1900-6C>T Single submitter
- c.1900-9A>T Single submitter
- c.2074-112C>T Single submitter
- c.2400+169A>C Single submitter
- c.2401-17_2401-16del Single submitter STT3B-congenital disorder of glycosylation
- c.424-11T>C Single submitter STT3B-congenital disorder of glycosylation
- c.424-155T>G Single submitter
- c.424-209T>C Single submitter
- c.424-4C>T Single submitter
- c.424-5C>T Single submitter STT3B-congenital disorder of glycosylation
- c.712-308T>C Single submitter
- c.777+11A>G Single submitter STT3B-congenital disorder of glycosylation
- c.778-12C>A Single submitter STT3B-congenital disorder of glycosylation
- c.878-15A>G Single submitter STT3B-congenital disorder of glycosylation
- c.976+7A>T Single submitter STT3B-congenital disorder of glycosylation
- c.*186G>A Single submitter
- p.Ala130= Single submitter STT3B-congenital disorder of glycosylation
- p.Ala83= Single submitter
- p.Arg804= Single submitter STT3B-congenital disorder of glycosylation
- p.Arg88= Single submitter STT3B-congenital disorder of glycosylation
- p.Asn560= Single submitter STT3B-congenital disorder of glycosylation
- p.Asn714= Single submitter
- p.Asp500= Single submitter STT3B-congenital disorder of glycosylation
- p.Asp575= Single submitter STT3B-congenital disorder of glycosylation
- p.Asp622= Single submitter
- p.Glu683= Single submitter STT3B-congenital disorder of glycosylation
- p.Gly515= Single submitter
- p.Gly608= Single submitter
- p.His783= Single submitter STT3B-congenital disorder of glycosylation
- p.Ile273= Single submitter
- p.Leu200= Single submitter STT3B-congenital disorder of glycosylation
- p.Leu445= Single submitter STT3B-congenital disorder of glycosylation
- p.Leu546= Single submitter STT3B-congenital disorder of glycosylation
- p.Leu781= Single submitter STT3B-congenital disorder of glycosylation
- p.Leu79= Single submitter
- p.Phe431= Single submitter
- p.Pro175= Single submitter STT3B-congenital disorder of glycosylation
- p.Ser219= Single submitter STT3B-congenital disorder of glycosylation
- p.Ser255= Single submitter STT3B-congenital disorder of glycosylation
- p.Ser305= Single submitter
- p.Thr249= Single submitter
- p.Thr390= Single submitter STT3B-congenital disorder of glycosylation
- p.Thr651Ser Single submitter
- p.Thr75= Single submitter STT3B-congenital disorder of glycosylation
- p.Thr761= Single submitter STT3B-congenital disorder of glycosylation
- p.Tyr511= Single submitter STT3B-congenital disorder of glycosylation
- p.Val290= Single submitter STT3B-congenital disorder of glycosylation
- p.Val357= Single submitter STT3B-congenital disorder of glycosylation
- p.Val539= Single submitter
- p.Val787= Single submitter STT3B-congenital disorder of glycosylation
Uncertain significance 85
- p.Ala644Ser Multiple submitters ⚠
- p.Ala774Thr Multiple submitters STT3B-congenital disorder of glycosylation ⚠
- p.Asn789Ser Multiple submitters STT3B-congenital disorder of glycosylation ⚠
- p.Cys253Ser Multiple submitters STT3B-congenital disorder of glycosylation
- p.Ser358Leu Multiple submitters STT3B-congenital disorder of glycosylation ⚠
- p.Val164Ile Multiple submitters STT3B-congenital disorder of glycosylation ⚠
- c.778-3T>C Single submitter STT3B-congenital disorder of glycosylation
- c.976+5G>T Single submitter STT3B-congenital disorder of glycosylation
- p.Ala150Ser Single submitter STT3B-congenital disorder of glycosylation ⚠
- p.Ala201Thr Single submitter STT3B-congenital disorder of glycosylation ⚠
- p.Ala599Val Single submitter ⚠
- p.Ala774Val Single submitter ⚠
- p.Arg129Ser Single submitter STT3B-congenital disorder of glycosylation ⚠
- p.Arg285Thr Single submitter ⚠
- p.Arg341Gly Single submitter ⚠
- p.Arg343Gln Single submitter ⚠
- p.Arg440Lys Single submitter ⚠
- p.Arg650Gly Single submitter STT3B-congenital disorder of glycosylation ⚠
- p.Arg691Gln Single submitter STT3B-congenital disorder of glycosylation ⚠
- p.Arg691Trp Single submitter STT3B-congenital disorder of glycosylation ⚠
- p.Arg806His Single submitter ⚠
- p.Asn124Asp Single submitter ⚠
- p.Asn194Asp Single submitter ⚠
- p.Asn271Ser Single submitter STT3B-congenital disorder of glycosylation ⚠
- p.Asn573Asp Single submitter ⚠
- p.Asp103Tyr Single submitter STT3B-congenital disorder of glycosylation ⚠
- p.Cys253Gly Single submitter ⚠
- p.Gln338His Single submitter STT3B-congenital disorder of glycosylation ⚠
- p.Glu529Asp Single submitter STT3B-congenital disorder of glycosylation ⚠
- p.Gly264Cys Single submitter ⚠
- p.Gly613Arg Single submitter STT3B-congenital disorder of glycosylation ⚠
- p.Gly84Ser Single submitter ⚠
- p.His783Gln Single submitter STT3B-congenital disorder of glycosylation ⚠
- p.Ile166Val Single submitter STT3B-congenital disorder of glycosylation ⚠
- p.Ile183Met Single submitter ⚠
- p.Ile205Val Single submitter STT3B-congenital disorder of glycosylation ⚠
- p.Ile207Thr Single submitter ⚠
- p.Ile207Val Single submitter STT3B-congenital disorder of glycosylation ⚠
- p.Ile225Val Single submitter ⚠
- p.Ile433Leu Single submitter ⚠
- p.Ile436Thr Single submitter
- p.Ile448Val Single submitter STT3B-congenital disorder of glycosylation ⚠
- p.Ile538Val Single submitter STT3B-congenital disorder of glycosylation ⚠
- p.Ile648Val Single submitter ⚠
- p.Ile790Val Single submitter ⚠
- p.Ile93Val Single submitter ⚠
- p.Leu421= Single submitter STT3B-congenital disorder of glycosylation
- p.Leu813Gln Single submitter ⚠
- p.Leu813Val Single submitter ⚠
- p.Lys346Glu Single submitter ⚠
- p.Lys536Arg Single submitter ⚠
- p.Lys793Thr Single submitter STT3B-congenital disorder of glycosylation ⚠
- p.Lys812Asn Single submitter ⚠
- p.Lys817Glu Single submitter STT3B-congenital disorder of glycosylation ⚠
- p.Met250Val Single submitter ⚠
- p.Met614Ile Single submitter STT3B-congenital disorder of glycosylation ⚠
- p.Phe257Leu Single submitter ⚠
- p.Phe354Leu Single submitter STT3B-congenital disorder of glycosylation ⚠
- p.Phe550Cys Single submitter ⚠
- p.Pro19Leu Single submitter ⚠
- p.Pro698Ser Single submitter ⚠
- p.Ser116Cys Single submitter ⚠
- p.Ser116Phe Single submitter ⚠
- p.Ser17Leu Single submitter ⚠
- p.Ser287Asn Single submitter ⚠
- p.Ser709Pro Single submitter ⚠
- p.Ser822Cys Single submitter ⚠
- p.Thr111Ala Single submitter ⚠
- p.Thr189Ala Single submitter ⚠
- p.Thr296Ser Single submitter STT3B-congenital disorder of glycosylation ⚠
- p.Thr409Pro Single submitter
- p.Thr788Ala Single submitter ⚠
- p.Tyr256Cys Single submitter ⚠
- p.Tyr298Cys Single submitter ⚠
- p.Tyr718Cys Single submitter ⚠
- p.Val169Ile Single submitter ⚠
- p.Val169Leu Single submitter ⚠
- p.Val241Ile Single submitter ⚠
- p.Val279Leu Single submitter ⚠
- p.Val300Ala Single submitter STT3B-congenital disorder of glycosylation ⚠
- p.Val368Phe Single submitter STT3B-congenital disorder of glycosylation ⚠
- p.Val467Ala Single submitter ⚠
- p.Val495Leu Single submitter ⚠
- p.Val657Leu Single submitter ⚠
- p.Val814Leu Single submitter ⚠