PRKAG3 — 120 ClinVar variants
All ClinVar germline PRKAG3 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 84 flagged for review →
4 Benign · 1 Benign/Likely benign · 29 Likely benign · 86 Uncertain significance
Full PRKAG3 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 84
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 73
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- PRKAG3 p.Ala100Pro Uncertain significance Single submitter
- PRKAG3 p.Ala102Asp Uncertain significance Single submitter
- PRKAG3 p.Ala123Thr Uncertain significance Single submitter
- PRKAG3 p.Ala158Pro Uncertain significance Single submitter
- PRKAG3 p.Ala215Asp Uncertain significance Single submitter
- PRKAG3 p.Ala215Val Uncertain significance Single submitter
- PRKAG3 p.Ala8Thr Uncertain significance Single submitter
- PRKAG3 p.Arg11Thr Uncertain significance Single submitter
- PRKAG3 p.Arg177Trp Uncertain significance Single submitter
- PRKAG3 p.Arg252Leu Uncertain significance Single submitter
- PRKAG3 p.Arg326Cys Uncertain significance Single submitter
- PRKAG3 p.Arg326His Uncertain significance Single submitter
- PRKAG3 p.Arg346Cys Uncertain significance Single submitter
- PRKAG3 p.Arg346His Uncertain significance Single submitter
- PRKAG3 p.Arg346Leu Uncertain significance Single submitter
- PRKAG3 p.Arg398Cys Uncertain significance Single submitter
- PRKAG3 p.Arg398His Uncertain significance Single submitter
- PRKAG3 p.Arg449Trp Uncertain significance Single submitter
- PRKAG3 p.Arg50Cys Uncertain significance Single submitter
- PRKAG3 p.Arg59Lys Uncertain significance Single submitter
- PRKAG3 p.Asp120Val Uncertain significance Single submitter
- PRKAG3 p.Asp207Asn Uncertain significance Single submitter
- PRKAG3 p.Asp207Tyr Uncertain significance Single submitter
- PRKAG3 p.Asp245Glu Uncertain significance Single submitter
- PRKAG3 p.Asp291His Uncertain significance Single submitter
- PRKAG3 p.Asp377Asn Uncertain significance Single submitter
- PRKAG3 p.Asp445Asn Uncertain significance Single submitter
- PRKAG3 p.Cys116Phe Uncertain significance Single submitter
- PRKAG3 p.Cys147Ser Uncertain significance Single submitter
- PRKAG3 p.Gln189Arg Uncertain significance Single submitter
- PRKAG3 p.Glu155Asp Uncertain significance Single submitter
- PRKAG3 p.Glu190Lys Uncertain significance Single submitter
- PRKAG3 p.Glu22Asp Uncertain significance Single submitter
- PRKAG3 p.Glu388Lys Uncertain significance Single submitter
- PRKAG3 p.Gly279Ala Uncertain significance Single submitter
- PRKAG3 p.Gly279Asp Uncertain significance Single submitter
- PRKAG3 p.Gly4Ala Uncertain significance Single submitter
- PRKAG3 p.Gly4Arg Uncertain significance Single submitter
- PRKAG3 p.His412Tyr Uncertain significance Single submitter
- PRKAG3 p.Ile247Thr Uncertain significance Single submitter
- PRKAG3 p.Ile348Val Uncertain significance Single submitter
- PRKAG3 p.Ile368Asn Uncertain significance Single submitter
- PRKAG3 p.Ile444Asn Uncertain significance Single submitter
- PRKAG3 p.Leu170Arg Uncertain significance Single submitter
- PRKAG3 p.Leu293Pro Uncertain significance Single submitter
- PRKAG3 p.Leu327Pro Uncertain significance Single submitter
- PRKAG3 p.Leu413Pro Uncertain significance Single submitter
- PRKAG3 p.Leu5Gln Uncertain significance Single submitter
- PRKAG3 p.Leu9Met Uncertain significance Single submitter
- PRKAG3 p.Met240Ile Uncertain significance Single submitter
- PRKAG3 p.Met26Ile Uncertain significance Single submitter
- PRKAG3 p.Phe28Ser Uncertain significance Single submitter
- PRKAG3 p.Phe93Tyr Uncertain significance Single submitter
- PRKAG3 p.Pro163Leu Uncertain significance Single submitter
- PRKAG3 p.Ser128Cys Uncertain significance Single submitter
- PRKAG3 p.Ser129Thr Uncertain significance Single submitter
- PRKAG3 p.Ser201Cys Uncertain significance Single submitter
- PRKAG3 p.Ser342Ala Uncertain significance Single submitter
- PRKAG3 p.Thr137Met Uncertain significance Single submitter
- PRKAG3 p.Thr370Asn Uncertain significance Single submitter
- PRKAG3 p.Trp37Ser Uncertain significance Single submitter
- PRKAG3 p.Tyr194Cys Uncertain significance Single submitter
- PRKAG3 p.Tyr253Cys Uncertain significance Single submitter
- PRKAG3 p.Val107Glu Uncertain significance Single submitter
-
PRKAG3 p.Arg225Gln
Uncertain significance
No assertion criteria
Increased muscle glycogen content
-
PRKAG3 p.Arg307Cys
Uncertain significance
No assertion criteria
Increased muscle glycogen content
-
PRKAG3 p.Arg340Gln
Uncertain significance
No assertion criteria
Increased muscle glycogen content
-
PRKAG3 p.Asp103Gly
Uncertain significance
No assertion criteria
Increased muscle glycogen content
-
PRKAG3 p.Glu211Gln
Uncertain significance
No assertion criteria
Increased muscle glycogen content
-
PRKAG3 p.Glu76Gln
Uncertain significance
No assertion criteria
Increased muscle glycogen content
-
PRKAG3 p.Gly113Val
Uncertain significance
No assertion criteria
Increased muscle glycogen content
-
PRKAG3 p.Gly180Ser
Uncertain significance
No assertion criteria
Increased muscle glycogen content
-
PRKAG3 p.Ile269Thr
Uncertain significance
No assertion criteria
Increased muscle glycogen content
Predictors split 11
The independent predictors disagree with each other — read with care.
- PRKAG3 p.Ala405Val Uncertain significance Single submitter
- PRKAG3 p.Arg252His Uncertain significance Single submitter
- PRKAG3 p.Asp291Tyr Uncertain significance Single submitter
- PRKAG3 p.Asp358Tyr Uncertain significance Single submitter
- PRKAG3 p.Gln260Arg Likely benign Single submitter
- PRKAG3 p.Gly223Ser Uncertain significance Single submitter
- PRKAG3 p.Pro313Leu Uncertain significance Single submitter
- PRKAG3 p.Val376Met Uncertain significance Single submitter
- PRKAG3 p.Val393Met Uncertain significance Single submitter
- PRKAG3 p.Val401Ala Uncertain significance Single submitter
-
PRKAG3 p.Met197Thr
Uncertain significance
No assertion criteria
Increased muscle glycogen content
All PRKAG3 variants
Benign 4
- p.Pro3= Multiple submitters
- c.633+10C>T No assertion criteria PRKAG3-related disorder
- p.Ile444= No assertion criteria PRKAG3-related disorder
- p.Leu153Val No assertion criteria PRKAG3-related disorder
Benign/Likely benign 1
- p.Phe206= Multiple submitters
Likely benign 29
- p.Pro313= Multiple submitters
- c.1168+7A>G Single submitter
- c.1169-8C>T Single submitter
- c.715+11G>A Single submitter
- c.73+14C>A Single submitter
- c.73+9A>C Single submitter
- c.820+17A>G Single submitter
- c.875+11C>T Single submitter
- p.Ala141= Single submitter
- p.Ala144= Single submitter
- p.Ala221= Single submitter
- p.Arg10His Single submitter
- p.Arg177= Single submitter
- p.Arg177Gln Single submitter
- p.Arg304= Single submitter
- p.Arg424= Single submitter
- p.Arg50His Single submitter
- p.Asp115= Single submitter
- p.Gln260Arg Single submitter ⚠
- p.Glu70= Single submitter
- p.Gly113= Single submitter
- p.His7= Single submitter
- p.Pro339= Single submitter
- p.Ser336Phe Single submitter
- p.Ser65= Single submitter
- p.Thr87= Single submitter
- p.Tyr194= Single submitter
- p.Val238= Single submitter
- p.Ala105= No assertion criteria PRKAG3-related disorder
Uncertain significance 86
- c.229+1G>T Single submitter PRKAG3-related disorder
- p.Ala100Pro Single submitter ⚠
- p.Ala102Asp Single submitter ⚠
- p.Ala123Thr Single submitter ⚠
- p.Ala158Pro Single submitter ⚠
- p.Ala181Pro Single submitter
- p.Ala215Asp Single submitter ⚠
- p.Ala215Val Single submitter ⚠
- p.Ala405Val Single submitter ⚠
- p.Ala8Thr Single submitter ⚠
- p.Arg11Thr Single submitter ⚠
- p.Arg177Trp Single submitter ⚠
- p.Arg252His Single submitter ⚠
- p.Arg252Leu Single submitter ⚠
- p.Arg326Cys Single submitter ⚠
- p.Arg326His Single submitter ⚠
- p.Arg346Cys Single submitter ⚠
- p.Arg346His Single submitter ⚠
- p.Arg346Leu Single submitter ⚠
- p.Arg398Cys Single submitter ⚠
- p.Arg398His Single submitter ⚠
- p.Arg449Trp Single submitter ⚠
- p.Arg50Cys Single submitter ⚠
- p.Arg59Lys Single submitter ⚠
- p.Asp120Val Single submitter ⚠
- p.Asp207Asn Single submitter ⚠
- p.Asp207Tyr Single submitter ⚠
- p.Asp245Glu Single submitter ⚠
- p.Asp291His Single submitter ⚠
- p.Asp291Tyr Single submitter ⚠
- p.Asp358Tyr Single submitter ⚠
- p.Asp377Asn Single submitter ⚠
- p.Asp445Asn Single submitter ⚠
- p.Cys116Phe Single submitter ⚠
- p.Cys147Ser Single submitter ⚠
- p.Gln189Arg Single submitter ⚠
- p.Glu155Asp Single submitter ⚠
- p.Glu175Lys Single submitter
- p.Glu190Lys Single submitter ⚠
- p.Glu22Asp Single submitter ⚠
- p.Glu388Lys Single submitter ⚠
- p.Gly223Ser Single submitter ⚠
- p.Gly279Ala Single submitter ⚠
- p.Gly279Asp Single submitter ⚠
- p.Gly4Ala Single submitter ⚠
- p.Gly4Arg Single submitter ⚠
- p.His412Tyr Single submitter ⚠
- p.Ile247Thr Single submitter ⚠
- p.Ile348Val Single submitter ⚠
- p.Ile368Asn Single submitter ⚠
- p.Ile444Asn Single submitter ⚠
- p.Leu170Arg Single submitter ⚠
- p.Leu293Pro Single submitter ⚠
- p.Leu327Pro Single submitter ⚠
- p.Leu413Pro Single submitter ⚠
- p.Leu5Gln Single submitter ⚠
- p.Leu9Met Single submitter ⚠
- p.Met240Ile Single submitter ⚠
- p.Met26Ile Single submitter ⚠
- p.Phe28Ser Single submitter ⚠
- p.Phe93Tyr Single submitter ⚠
- p.Pro163Leu Single submitter ⚠
- p.Pro313Leu Single submitter ⚠
- p.Ser128Cys Single submitter ⚠
- p.Ser129Thr Single submitter ⚠
- p.Ser201Cys Single submitter ⚠
- p.Ser342Ala Single submitter ⚠
- p.Thr137Met Single submitter ⚠
- p.Thr370Asn Single submitter ⚠
- p.Trp37Ser Single submitter ⚠
- p.Tyr194Cys Single submitter ⚠
- p.Tyr253Cys Single submitter ⚠
- p.Val107Glu Single submitter ⚠
- p.Val376Met Single submitter ⚠
- p.Val393Met Single submitter ⚠
- p.Val401Ala Single submitter ⚠
- p.Arg225Gln No assertion criteria Increased muscle glycogen content ⚠
- p.Arg307Cys No assertion criteria Increased muscle glycogen content ⚠
- p.Arg340Gln No assertion criteria Increased muscle glycogen content ⚠
- p.Asp103Gly No assertion criteria Increased muscle glycogen content ⚠
- p.Glu211Gln No assertion criteria Increased muscle glycogen content ⚠
- p.Glu76Gln No assertion criteria Increased muscle glycogen content ⚠
- p.Gly113Val No assertion criteria Increased muscle glycogen content ⚠
- p.Gly180Ser No assertion criteria Increased muscle glycogen content ⚠
- p.Ile269Thr No assertion criteria Increased muscle glycogen content ⚠
- p.Met197Thr No assertion criteria Increased muscle glycogen content ⚠