PRKAG1 — 32 ClinVar variants
All ClinVar germline PRKAG1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 29 flagged for review →
1 Likely benign · 31 Uncertain significance
Full PRKAG1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 29
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 24
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- PRKAG1 p.Arg208His Uncertain significance Single submitter
- PRKAG1 p.Arg291Ser Uncertain significance Single submitter
- PRKAG1 p.Asn25Ser Uncertain significance Single submitter
- PRKAG1 p.Asp157Asn Uncertain significance Single submitter
- PRKAG1 p.Asp259Gly Uncertain significance Single submitter
- PRKAG1 p.Glu14Lys Uncertain significance Single submitter
- PRKAG1 p.Gly218Arg Uncertain significance Single submitter
- PRKAG1 p.Gly68Ser Uncertain significance Single submitter
- PRKAG1 p.His271Arg Uncertain significance Single submitter
- PRKAG1 p.His282Gln Uncertain significance Single submitter
- PRKAG1 p.His36Tyr Uncertain significance Single submitter
- PRKAG1 p.Leu249Val Uncertain significance Single submitter
- PRKAG1 p.Leu277Val Uncertain significance Single submitter
- PRKAG1 p.Leu41Pro Uncertain significance Single submitter
- PRKAG1 p.Lys330Gln Uncertain significance Single submitter
- PRKAG1 p.Lys34Arg Uncertain significance Single submitter
- PRKAG1 p.Ser7Leu Uncertain significance Single submitter
- PRKAG1 p.Thr209Ile Uncertain significance Single submitter
- PRKAG1 p.Thr3Met Uncertain significance Single submitter
- PRKAG1 p.Tyr29Cys Uncertain significance Single submitter
- PRKAG1 p.Tyr29His Uncertain significance Single submitter
- PRKAG1 p.Val155Ile Uncertain significance Single submitter
- PRKAG1 p.Val213Ile Uncertain significance Single submitter
- PRKAG1 p.Val28Met Uncertain significance Single submitter
Predictors split 5
The independent predictors disagree with each other — read with care.
All PRKAG1 variants
Likely benign 1
- p.Lys330Asn No assertion criteria EBV-positive nodal T- and NK-cell lymphoma
Uncertain significance 31
- c.251-24T>C Single submitter
- p.Arg208His Single submitter ⚠
- p.Arg291Ser Single submitter ⚠
- p.Arg97Cys Single submitter
- p.Arg97His Single submitter ⚠
- p.Asn25Ser Single submitter ⚠
- p.Asp157Asn Single submitter ⚠
- p.Asp259Gly Single submitter ⚠
- p.Glu14Lys Single submitter ⚠
- p.Gly218Arg Single submitter ⚠
- p.Gly68Ser Single submitter ⚠
- p.His271Arg Single submitter ⚠
- p.His282Gln Single submitter ⚠
- p.His36Tyr Single submitter ⚠
- p.Leu249Val Single submitter ⚠
- p.Leu277Val Single submitter ⚠
- p.Leu41Pro Single submitter ⚠
- p.Lys330Gln Single submitter ⚠
- p.Lys34Arg Single submitter ⚠
- p.Pro158Thr Single submitter ⚠
- p.Ser7Leu Single submitter ⚠
- p.Thr209Ile Single submitter ⚠
- p.Thr3Met Single submitter ⚠
- p.Tyr214Cys Single submitter ⚠
- p.Tyr29Cys Single submitter ⚠
- p.Tyr29His Single submitter ⚠
- p.Val155Ile Single submitter ⚠
- p.Val213Ile Single submitter ⚠
- p.Val215Leu Single submitter ⚠
- p.Val215Met Single submitter ⚠
- p.Val28Met Single submitter ⚠