ATG12 — 29 ClinVar variants
All ClinVar germline ATG12 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 24 flagged for review →
4 Likely pathogenic · 1 Conflicting · 1 Likely benign · 23 Uncertain significance
Full ATG12 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 24
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 15
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- ATG12 p.Gln114Arg Uncertain significance Single submitter
- ATG12 p.Gln6Pro Uncertain significance Single submitter
- ATG12 p.Gly43Arg Uncertain significance Single submitter
- ATG12 p.Ile102Val Uncertain significance Single submitter
- ATG12 p.Ile57Val Uncertain significance Single submitter
- ATG12 p.Leu11Val Uncertain significance Single submitter
- ATG12 p.Leu22Arg Uncertain significance Single submitter
- ATG12 p.Lys52Arg Uncertain significance Single submitter
- ATG12 p.Pro42Ala Uncertain significance Single submitter
- ATG12 p.Pro47Ser Uncertain significance Single submitter
- ATG12 p.Pro5Leu Uncertain significance Single submitter
- ATG12 p.Ser7Cys Uncertain significance Single submitter
- ATG12 p.Thr23Arg Uncertain significance Single submitter
- ATG12 p.Thr29Lys Uncertain significance Single submitter
- ATG12 p.Val8Leu Uncertain significance Single submitter
Predictors split 9
The independent predictors disagree with each other — read with care.
- ATG12 p.Ala2Val Uncertain significance Single submitter
- ATG12 p.Ala74Val Uncertain significance Single submitter
- ATG12 p.Glu4Lys Uncertain significance Single submitter
- ATG12 p.Lys71Asn Uncertain significance Single submitter
- ATG12 p.Ser107Cys Uncertain significance Single submitter
- ATG12 p.Ser14Leu Uncertain significance Single submitter
- ATG12 p.Ser36Phe Uncertain significance Single submitter
-
ATG12 p.Tyr120Ser
Conflicting
Single submitter
mitochondrial disease
- ATG12 p.Val75Ile Uncertain significance Single submitter
All ATG12 variants
Likely pathogenic 4
- c.363+3A>T Single submitter mitochondrial disease
- p.Ala138Val Single submitter mitochondrial disease
- p.Arg79Ter Single submitter mitochondrial disease
- p.Phe108Leu Single submitter mitochondrial disease
Conflicting classifications of pathogenicity 1
- p.Tyr120Ser Single submitter mitochondrial disease ⚠
Likely benign 1
- p.Ile15Thr Single submitter
Uncertain significance 23
- p.Ala2Val Single submitter ⚠
- p.Ala74Val Single submitter ⚠
- p.Gln114Arg Single submitter ⚠
- p.Gln6Pro Single submitter ⚠
- p.Glu4Lys Single submitter ⚠
- p.Gly43Arg Single submitter ⚠
- p.Ile102Val Single submitter ⚠
- p.Ile57Val Single submitter ⚠
- p.Leu11Val Single submitter ⚠
- p.Leu22Arg Single submitter ⚠
- p.Lys52Arg Single submitter ⚠
- p.Lys71Asn Single submitter ⚠
- p.Pro42Ala Single submitter ⚠
- p.Pro47Ser Single submitter ⚠
- p.Pro5Leu Single submitter ⚠
- p.Ser107Cys Single submitter ⚠
- p.Ser14Leu Single submitter ⚠
- p.Ser36Phe Single submitter ⚠
- p.Ser7Cys Single submitter ⚠
- p.Thr23Arg Single submitter ⚠
- p.Thr29Lys Single submitter ⚠
- p.Val75Ile Single submitter ⚠
- p.Val8Leu Single submitter ⚠