ATIC — 166 ClinVar variants
All ClinVar germline ATIC variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 99 flagged for review →
1 Pathogenic · 7 Likely pathogenic · 3 Conflicting · 22 Benign · 7 Benign/Likely benign · 32 Likely benign · 94 Uncertain significance
Full ATIC gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 99
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.
Predictors lean, ClinVar uncertain 50
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- ATIC p.Ala140Thr Uncertain significance Multiple submitters
-
ATIC p.Ala183Glu
Uncertain significance
Multiple submitters
AICA-ribosiduria
- ATIC p.Ile491Val Uncertain significance Multiple submitters
- ATIC p.Val154Ala Uncertain significance Multiple submitters
-
ATIC p.Ala136Thr
Uncertain significance
Single submitter
AICA-ribosiduria
- ATIC p.Ala256Thr Uncertain significance Single submitter
- ATIC p.Ala38Thr Uncertain significance Single submitter
- ATIC p.Ala551Thr Uncertain significance Single submitter
- ATIC p.Ala560Val Uncertain significance Single submitter
- ATIC p.Ala583Ser Uncertain significance Single submitter
- ATIC p.Arg311Gly Uncertain significance Single submitter
- ATIC p.Arg311Lys Uncertain significance Single submitter
- ATIC p.Arg335Lys Uncertain significance Single submitter
- ATIC p.Arg335Thr Uncertain significance Single submitter
- ATIC p.Arg456Cys Uncertain significance Single submitter
- ATIC p.Arg64His Uncertain significance Single submitter
- ATIC p.Asp291Glu Uncertain significance Single submitter
- ATIC p.Asp396Gly Uncertain significance Single submitter
-
ATIC p.Asp492Tyr
Uncertain significance
Single submitter
AICA-ribosiduria
- ATIC p.Asp549Gly Uncertain significance Single submitter
- ATIC p.Asp568Asn Uncertain significance Single submitter
- ATIC p.Asp87Gly Uncertain significance Single submitter
- ATIC p.Gln214His Uncertain significance Single submitter
- ATIC p.Glu514Lys Uncertain significance Single submitter
- ATIC p.Gly360Arg Uncertain significance Single submitter
- ATIC p.Gly439Arg Uncertain significance Single submitter
- ATIC p.Gly443Ser Uncertain significance Single submitter
- ATIC p.His470Gln Uncertain significance Single submitter
- ATIC p.Ile96Thr Uncertain significance Single submitter
- ATIC p.Leu418Phe Uncertain significance Single submitter
- ATIC p.Leu46Arg Uncertain significance Single submitter
- ATIC p.Leu91Pro Uncertain significance Single submitter
- ATIC p.Lys357Glu Uncertain significance Single submitter
- ATIC p.Lys569Asn Uncertain significance Single submitter
- ATIC p.Met88Val Uncertain significance Single submitter
- ATIC p.Phe193Val Uncertain significance Single submitter
-
ATIC p.Phe9Leu
Uncertain significance
Single submitter
AICA-ribosiduria
- ATIC p.Pro516Leu Uncertain significance Single submitter
- ATIC p.Pro562Thr Uncertain significance Single submitter
- ATIC p.Ser538Pro Uncertain significance Single submitter
- ATIC p.Thr130Ser Uncertain significance Single submitter
- ATIC p.Thr143Arg Uncertain significance Single submitter
- ATIC p.Thr166Ile Uncertain significance Single submitter
- ATIC p.Thr182Met Uncertain significance Single submitter
- ATIC p.Thr182Ser Uncertain significance Single submitter
- ATIC p.Thr455Pro Uncertain significance Single submitter
- ATIC p.Thr55Met Uncertain significance Single submitter
- ATIC p.Trp508Ser Uncertain significance Single submitter
- ATIC p.Val394Ile Uncertain significance Single submitter
- ATIC p.Val548Ile Uncertain significance Single submitter
Predictors split 48
The independent predictors disagree with each other — read with care.
-
ATIC p.Ala2Val
Benign/Likely benign
Multiple submitters
AICA-ribosiduria
- ATIC p.Ala510Thr Uncertain significance Multiple submitters
- ATIC p.Glu412Lys Benign/Likely benign Multiple submitters
-
ATIC p.Gly500Asp
Benign/Likely benign
Multiple submitters
AICA-ribosiduria
-
ATIC p.His584Arg
Uncertain significance
Multiple submitters
AICA-ribosiduria
- ATIC p.Ile572Thr Benign/Likely benign Multiple submitters
- ATIC p.Pro471Ser Benign Multiple submitters
- ATIC p.Ala178Val Uncertain significance Single submitter
- ATIC p.Ala188Gly Uncertain significance Single submitter
- ATIC p.Ala301Glu Uncertain significance Single submitter
- ATIC p.Ala458Gly Uncertain significance Single submitter
- ATIC p.Ala485Thr Uncertain significance Single submitter
- ATIC p.Ala71Val Uncertain significance Single submitter
- ATIC p.Ala89Val Uncertain significance Single submitter
- ATIC p.Arg545Gln Uncertain significance Single submitter
- ATIC p.Arg79His Uncertain significance Single submitter
-
ATIC p.Asn489Ser
Uncertain significance
Single submitter
AICA-ribosiduria
- ATIC p.Asp291Asn Uncertain significance Single submitter
- ATIC p.Gln196Arg Uncertain significance Single submitter
- ATIC p.Glu119Lys Uncertain significance Single submitter
- ATIC p.Glu521Gly Uncertain significance Single submitter
- ATIC p.Glu573Lys Uncertain significance Single submitter
- ATIC p.His470Tyr Uncertain significance Single submitter
- ATIC p.His591Arg Uncertain significance Single submitter
- ATIC p.Ile353Val Uncertain significance Single submitter
- ATIC p.Ile499Thr Uncertain significance Single submitter
- ATIC p.Ile536Phe Uncertain significance Single submitter
- ATIC p.Ile559Val Uncertain significance Single submitter
- ATIC p.Leu132Val Uncertain significance Single submitter
- ATIC p.Leu240Phe Uncertain significance Single submitter
- ATIC p.Leu31Val Uncertain significance Single submitter
- ATIC p.Leu418Val Uncertain significance Single submitter
- ATIC p.Leu531Gln Uncertain significance Single submitter
-
ATIC p.Lys426Arg
Conflicting
Single submitter
AICA-ribosiduria
- ATIC p.Lys479Glu Uncertain significance Single submitter
- ATIC p.Pro260Leu Uncertain significance Single submitter
- ATIC p.Ser370Phe Uncertain significance Single submitter
- ATIC p.Ser52Cys Uncertain significance Single submitter
- ATIC p.Thr156Met Uncertain significance Single submitter
- ATIC p.Thr166Ala Uncertain significance Single submitter
- ATIC p.Thr329Ala Uncertain significance Single submitter
- ATIC p.Thr380Ile Uncertain significance Single submitter
- ATIC p.Thr455Ala Uncertain significance Single submitter
- ATIC p.Tyr197Cys Uncertain significance Single submitter
- ATIC p.Tyr290Cys Uncertain significance Single submitter
- ATIC p.Val117Ala Uncertain significance Single submitter
- ATIC p.Val18Leu Uncertain significance Single submitter
- ATIC p.Val394Ala Uncertain significance Single submitter
All ATIC variants
Pathogenic 1
- p.Lys552Ter No assertion criteria AICA-ribosiduria
Likely pathogenic 7
- c.1227+2T>C Single submitter AICA-ribosiduria
- c.379+1G>A Single submitter
- c.923-2del Single submitter
- p.Ile124Thr Single submitter AICA-ribosiduria
- p.Lys357fs Single submitter AICA-ribosiduria
- p.Pro82fs Single submitter AICA-ribosiduria
- p.Tyr362Cys Single submitter AICA-ribosiduria
Conflicting classifications of pathogenicity 3
- p.Ala44fs Single submitter AICA-ribosiduria
- p.Lys426Arg Single submitter AICA-ribosiduria ⚠
- p.Val548Ala Single submitter ⚠
Benign 22
- c.1098+60C>G Multiple submitters AICA-ribosiduria
- c.1228-30A>G Multiple submitters AICA-ribosiduria
- c.147-111A>T Multiple submitters AICA-ribosiduria
- c.1503+48A>T Multiple submitters AICA-ribosiduria
- c.224-8T>A Multiple submitters
- c.380-19A>C Multiple submitters AICA-ribosiduria
- c.532-12C>T Multiple submitters
- c.-218A>G Multiple submitters AICA-ribosiduria
- c.-59T>G Multiple submitters AICA-ribosiduria
- p.Gly200= Multiple submitters
- p.Gly481= Multiple submitters
- p.Pro471Ser Multiple submitters ⚠
- p.Thr116Ser Multiple submitters AICA-ribosiduria
- c.1227+1537G>A Single submitter
- c.1504-7C>T Single submitter
- c.19+94G>A Single submitter
- c.290+1371C>T Single submitter
- c.689-16A>G Single submitter
- p.Asn94Ser Single submitter
- p.Asp191Glu Single submitter
- p.Lys199Glu Single submitter
- p.Val319Ile Single submitter
Benign/Likely benign 7
- p.Ala2Val Multiple submitters AICA-ribosiduria ⚠
- p.Ala557Val Multiple submitters AICA-ribosiduria
- p.Glu412Lys Multiple submitters ⚠
- p.Gly500Asp Multiple submitters AICA-ribosiduria ⚠
- p.Ile572Thr Multiple submitters ⚠
- p.Thr496= Multiple submitters
- p.Thr498= Multiple submitters AICA-ribosiduria
Likely benign 32
- c.380-18G>A Multiple submitters AICA-ribosiduria
- p.Ile419= Multiple submitters
- p.Leu168= Multiple submitters
- p.Leu589= Multiple submitters
- p.Thr55= Multiple submitters
- c.1503+11dup Single submitter
- c.1503+18G>C Single submitter
- c.379+15C>G Single submitter
- c.688+10G>A Single submitter
- c.688+9C>T Single submitter
- c.814+9C>T Single submitter
- p.Ala134= Single submitter
- p.Ala140= Single submitter
- p.Ala261= Single submitter
- p.Ala89Thr Single submitter
- p.Arg133= Single submitter
- p.Cys241= Single submitter
- p.Glu122= Single submitter
- p.Glu377= Single submitter
- p.Glu529Asp Single submitter
- p.Glu533Lys Single submitter
- p.Ile332= Single submitter
- p.Ile491= Single submitter
- p.Ile536= Single submitter
- p.Ser160= Single submitter
- p.Ser338= Single submitter
- p.Tyr435= Single submitter
- p.Val145= Single submitter
- p.Val570= Single submitter
- p.Glu514= No assertion criteria ATIC-related disorder
- p.Ile228Phe No assertion criteria
- p.Ser34= No assertion criteria ATIC-related disorder
Uncertain significance 94
- c.688+3A>G Multiple submitters
- p.Ala140Thr Multiple submitters ⚠
- p.Ala183Glu Multiple submitters AICA-ribosiduria ⚠
- p.Ala510Thr Multiple submitters ⚠
- p.His584Arg Multiple submitters AICA-ribosiduria ⚠
- p.Ile491Val Multiple submitters ⚠
- p.Val154Ala Multiple submitters ⚠
- p.Ala136Thr Single submitter AICA-ribosiduria ⚠
- p.Ala178Val Single submitter ⚠
- p.Ala188Gly Single submitter ⚠
- p.Ala256Thr Single submitter ⚠
- p.Ala301Glu Single submitter ⚠
- p.Ala38Thr Single submitter ⚠
- p.Ala458Gly Single submitter ⚠
- p.Ala485Thr Single submitter ⚠
- p.Ala551Thr Single submitter ⚠
- p.Ala560Val Single submitter ⚠
- p.Ala583Ser Single submitter ⚠
- p.Ala71Val Single submitter ⚠
- p.Ala89Val Single submitter ⚠
- p.Arg311Gly Single submitter ⚠
- p.Arg311Lys Single submitter ⚠
- p.Arg335Lys Single submitter ⚠
- p.Arg335Thr Single submitter ⚠
- p.Arg456Cys Single submitter ⚠
- p.Arg545Gln Single submitter ⚠
- p.Arg64His Single submitter ⚠
- p.Arg79His Single submitter ⚠
- p.Asn489Ser Single submitter AICA-ribosiduria ⚠
- p.Asp291Asn Single submitter ⚠
- p.Asp291Glu Single submitter ⚠
- p.Asp396Gly Single submitter ⚠
- p.Asp492Tyr Single submitter AICA-ribosiduria ⚠
- p.Asp549Gly Single submitter ⚠
- p.Asp568Asn Single submitter ⚠
- p.Asp87Gly Single submitter ⚠
- p.Gln196Arg Single submitter ⚠
- p.Gln214His Single submitter ⚠
- p.Glu119Lys Single submitter ⚠
- p.Glu514Lys Single submitter ⚠
- p.Glu521Gly Single submitter ⚠
- p.Glu573Lys Single submitter ⚠
- p.Gly360Arg Single submitter ⚠
- p.Gly439Arg Single submitter ⚠
- p.Gly443Ser Single submitter ⚠
- p.His470Gln Single submitter ⚠
- p.His470Tyr Single submitter ⚠
- p.His591Arg Single submitter ⚠
- p.Ile353Val Single submitter ⚠
- p.Ile499Thr Single submitter ⚠
- p.Ile536Phe Single submitter ⚠
- p.Ile559Val Single submitter ⚠
- p.Ile96Thr Single submitter ⚠
- p.Leu132Val Single submitter ⚠
- p.Leu240Phe Single submitter ⚠
- p.Leu31Val Single submitter ⚠
- p.Leu418Phe Single submitter ⚠
- p.Leu418Val Single submitter ⚠
- p.Leu46Arg Single submitter ⚠
- p.Leu531Gln Single submitter ⚠
- p.Leu91Pro Single submitter ⚠
- p.Lys357Glu Single submitter ⚠
- p.Lys479Glu Single submitter ⚠
- p.Lys569Asn Single submitter ⚠
- p.Met88Val Single submitter ⚠
- p.Phe193Val Single submitter ⚠
- p.Phe9Leu Single submitter AICA-ribosiduria ⚠
- p.Pro260Leu Single submitter ⚠
- p.Pro516Leu Single submitter ⚠
- p.Pro562Thr Single submitter ⚠
- p.Ser370Phe Single submitter ⚠
- p.Ser52Cys Single submitter ⚠
- p.Ser538Pro Single submitter ⚠
- p.Thr130Ser Single submitter ⚠
- p.Thr143Arg Single submitter ⚠
- p.Thr156Met Single submitter ⚠
- p.Thr166Ala Single submitter ⚠
- p.Thr166Ile Single submitter ⚠
- p.Thr182Met Single submitter ⚠
- p.Thr182Ser Single submitter ⚠
- p.Thr329Ala Single submitter ⚠
- p.Thr380Ile Single submitter ⚠
- p.Thr455Ala Single submitter ⚠
- p.Thr455Pro Single submitter ⚠
- p.Thr55Met Single submitter ⚠
- p.Trp508Ser Single submitter ⚠
- p.Tyr197Cys Single submitter ⚠
- p.Tyr290Cys Single submitter ⚠
- p.Val117Ala Single submitter ⚠
- p.Val18Leu Single submitter ⚠
- p.Val394Ala Single submitter ⚠
- p.Val394Ile Single submitter ⚠
- p.Val548Ile Single submitter ⚠
- p.Phe265fs No assertion criteria AICA-ribosiduria