SIRT3 — 98 ClinVar variants
All ClinVar germline SIRT3 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 81 flagged for review →
8 Benign · 7 Likely benign · 83 Uncertain significance
Full SIRT3 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 lean, ClinVar uncertain 57
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- SIRT3 p.Ala24Val Uncertain significance Single submitter
- SIRT3 p.Ala2Val Uncertain significance Single submitter
- SIRT3 p.Ala85Val Uncertain significance Single submitter
- SIRT3 p.Arg224Trp Uncertain significance Single submitter
- SIRT3 p.Arg269Gln Uncertain significance Single submitter
- SIRT3 p.Arg279Cys Uncertain significance Single submitter
- SIRT3 p.Arg43Gly Uncertain significance Single submitter
- SIRT3 p.Arg57Cys Uncertain significance Single submitter
- SIRT3 p.Arg57Gly Uncertain significance Single submitter
- SIRT3 p.Arg77Thr Uncertain significance Single submitter
- SIRT3 p.Arg81Lys Uncertain significance Single submitter
- SIRT3 p.Asn207Lys Uncertain significance Single submitter
- SIRT3 p.Asn207Ser Uncertain significance Single submitter
- SIRT3 p.Asn344Ile Uncertain significance Single submitter
- SIRT3 p.Asp172His Uncertain significance Single submitter
- SIRT3 p.Asp231Asn Uncertain significance Single submitter
- SIRT3 p.Asp290Asn Uncertain significance Single submitter
- SIRT3 p.Asp385Val Uncertain significance Single submitter
- SIRT3 p.Asp45Tyr Uncertain significance Single submitter
- SIRT3 p.Gln300Pro Uncertain significance Single submitter
- SIRT3 p.Glu332Lys Uncertain significance Single submitter
- SIRT3 p.Glu74Lys Uncertain significance Single submitter
- SIRT3 p.Gly107Val Uncertain significance Single submitter
- SIRT3 p.Gly147Ser Uncertain significance Single submitter
- SIRT3 p.Gly163Asp Uncertain significance Single submitter
- SIRT3 p.Gly25Arg Uncertain significance Single submitter
- SIRT3 p.Gly319Glu Uncertain significance Single submitter
- SIRT3 p.Gly319Val Uncertain significance Single submitter
- SIRT3 p.Gly49Val Uncertain significance Single submitter
- SIRT3 p.Ile132Met Uncertain significance Single submitter
- SIRT3 p.Leu213Val Uncertain significance Single submitter
- SIRT3 p.Leu222Pro Uncertain significance Single submitter
- SIRT3 p.Leu316Phe Uncertain significance Single submitter
- SIRT3 p.Leu38Gln Uncertain significance Single submitter
- SIRT3 p.Leu40Phe Uncertain significance Single submitter
- SIRT3 p.Leu67Met Uncertain significance Single submitter
- SIRT3 p.Phe3Ser Uncertain significance Single submitter
- SIRT3 p.Pro278Ser Uncertain significance Single submitter
- SIRT3 p.Pro281Leu Uncertain significance Single submitter
- SIRT3 p.Pro281Ser Uncertain significance Single submitter
- SIRT3 p.Pro289Leu Uncertain significance Single submitter
- SIRT3 p.Pro297Leu Uncertain significance Single submitter
- SIRT3 p.Pro297Ser Uncertain significance Single submitter
- SIRT3 p.Pro30Leu Uncertain significance Single submitter
- SIRT3 p.Pro397Ala Uncertain significance Single submitter
- SIRT3 p.Pro66Arg Uncertain significance Single submitter
- SIRT3 p.Pro70Leu Uncertain significance Single submitter
- SIRT3 p.Pro83Gln Uncertain significance Single submitter
- SIRT3 p.Ser166Gly Uncertain significance Single submitter
- SIRT3 p.Ser357Arg Uncertain significance Single submitter
- SIRT3 p.Ser53Arg Uncertain significance Single submitter
- SIRT3 p.Ser89Asn Uncertain significance Single submitter
- SIRT3 p.Thr227Ala Uncertain significance Single submitter
- SIRT3 p.Thr250Ile Uncertain significance Single submitter
- SIRT3 p.Tyr204His Uncertain significance Single submitter
- SIRT3 p.Val334Met Uncertain significance Single submitter
- SIRT3 p.Val46Leu Uncertain significance Single submitter
Predictors split 24
The independent predictors disagree with each other — read with care.
- SIRT3 p.Ala129Thr Uncertain significance Single submitter
- SIRT3 p.Arg276Ser Uncertain significance Single submitter
- SIRT3 p.Arg279Gly Uncertain significance Single submitter
- SIRT3 p.Arg345Gln Uncertain significance Single submitter
- SIRT3 p.Arg356Cys Uncertain significance Single submitter
- SIRT3 p.Asn167Ser Uncertain significance Single submitter
- SIRT3 p.Asn203Tyr Uncertain significance Single submitter
- SIRT3 p.Gly5Asp Uncertain significance Single submitter
- SIRT3 p.Leu314Val Uncertain significance Single submitter
- SIRT3 p.Met143Ile Uncertain significance Single submitter
- SIRT3 p.Phe251Leu Uncertain significance Single submitter
- SIRT3 p.Pro151Arg Uncertain significance Single submitter
- SIRT3 p.Pro151Thr Uncertain significance Single submitter
- SIRT3 p.Pro160Gln Uncertain significance Single submitter
- SIRT3 p.Pro160Leu Uncertain significance Single submitter
- SIRT3 p.Pro174Leu Uncertain significance Single submitter
- SIRT3 p.Ser124Tyr Uncertain significance Single submitter
- SIRT3 p.Ser237Leu Uncertain significance Single submitter
- SIRT3 p.Thr380Ile Uncertain significance Single submitter
- SIRT3 p.Val144Gly Uncertain significance Single submitter
- SIRT3 p.Val334Ala Uncertain significance Single submitter
- SIRT3 p.Val338Leu Uncertain significance Single submitter
- SIRT3 p.Val370Met Uncertain significance Single submitter
-
SIRT3 p.Gly285Ser
Likely benign
No assertion criteria
SIRT3-related disorder
All SIRT3 variants
Benign 8
- p.Phe79Leu Multiple submitters
- p.Pro262His Multiple submitters
- c.-9G>C No assertion criteria SIRT3-related disorder
- p.Arg80Trp No assertion criteria SIRT3-related disorder
- p.His368= No assertion criteria SIRT3-related disorder
- p.Pro281= No assertion criteria SIRT3-related disorder
- p.Ser159= No assertion criteria SIRT3-related disorder
- p.Val208Ile No assertion criteria SIRT3-related disorder
Likely benign 7
- p.Ala9Val Single submitter
- p.Asp172Asn Single submitter
- p.Gln388Arg Single submitter
- p.Leu14Val Single submitter
- p.Ala11= No assertion criteria SIRT3-related disorder
- p.Gly161= No assertion criteria SIRT3-related disorder
- p.Gly285Ser No assertion criteria SIRT3-related disorder ⚠
Uncertain significance 83
- p.Ala129Thr Single submitter ⚠
- p.Ala146Ser Single submitter
- p.Ala196Thr Single submitter
- p.Ala24Val Single submitter ⚠
- p.Ala2Val Single submitter ⚠
- p.Ala85Val Single submitter ⚠
- p.Arg224Trp Single submitter ⚠
- p.Arg269Gln Single submitter ⚠
- p.Arg276Ser Single submitter ⚠
- p.Arg279Cys Single submitter ⚠
- p.Arg279Gly Single submitter ⚠
- p.Arg345Gln Single submitter ⚠
- p.Arg356Cys Single submitter ⚠
- p.Arg43Gly Single submitter ⚠
- p.Arg57Cys Single submitter ⚠
- p.Arg57Gly Single submitter ⚠
- p.Arg77Thr Single submitter ⚠
- p.Arg81Lys Single submitter ⚠
- p.Asn167Ser Single submitter ⚠
- p.Asn203Tyr Single submitter ⚠
- p.Asn207Lys Single submitter ⚠
- p.Asn207Ser Single submitter ⚠
- p.Asn344Ile Single submitter ⚠
- p.Asp172His Single submitter ⚠
- p.Asp231Asn Single submitter ⚠
- p.Asp290Asn Single submitter ⚠
- p.Asp385Val Single submitter ⚠
- p.Asp45Tyr Single submitter ⚠
- p.Gln300Pro Single submitter ⚠
- p.Glu332Lys Single submitter ⚠
- p.Glu74Lys Single submitter ⚠
- p.Gly107Val Single submitter ⚠
- p.Gly147Ser Single submitter ⚠
- p.Gly163Asp Single submitter ⚠
- p.Gly25Arg Single submitter ⚠
- p.Gly319Glu Single submitter ⚠
- p.Gly319Val Single submitter ⚠
- p.Gly49Val Single submitter ⚠
- p.Gly5Asp Single submitter ⚠
- p.Ile132Met Single submitter ⚠
- p.Leu213Val Single submitter ⚠
- p.Leu222Pro Single submitter ⚠
- p.Leu314Val Single submitter ⚠
- p.Leu316Phe Single submitter ⚠
- p.Leu38Gln Single submitter ⚠
- p.Leu40Phe Single submitter ⚠
- p.Leu67Met Single submitter ⚠
- p.Met143Ile Single submitter ⚠
- p.Phe251Leu Single submitter ⚠
- p.Phe3Ser Single submitter ⚠
- p.Pro151Arg Single submitter ⚠
- p.Pro151Thr Single submitter ⚠
- p.Pro160Gln Single submitter ⚠
- p.Pro160Leu Single submitter ⚠
- p.Pro174Leu Single submitter ⚠
- p.Pro278Ser Single submitter ⚠
- p.Pro281Leu Single submitter ⚠
- p.Pro281Ser Single submitter ⚠
- p.Pro289Leu Single submitter ⚠
- p.Pro297Leu Single submitter ⚠
- p.Pro297Ser Single submitter ⚠
- p.Pro30Leu Single submitter ⚠
- p.Pro397Ala Single submitter ⚠
- p.Pro66Arg Single submitter ⚠
- p.Pro70Leu Single submitter ⚠
- p.Pro83Gln Single submitter ⚠
- p.Ser124Tyr Single submitter ⚠
- p.Ser166Gly Single submitter ⚠
- p.Ser237Leu Single submitter ⚠
- p.Ser357Arg Single submitter ⚠
- p.Ser53Arg Single submitter ⚠
- p.Ser89Asn Single submitter ⚠
- p.Thr227Ala Single submitter ⚠
- p.Thr250Ile Single submitter ⚠
- p.Thr380Ile Single submitter ⚠
- p.Tyr204His Single submitter ⚠
- p.Val141Ala Single submitter
- p.Val144Gly Single submitter ⚠
- p.Val334Ala Single submitter ⚠
- p.Val334Met Single submitter ⚠
- p.Val338Leu Single submitter ⚠
- p.Val370Met Single submitter ⚠
- p.Val46Leu Single submitter ⚠