SIRT1 — 136 ClinVar variants
All ClinVar germline SIRT1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 79 flagged for review →
9 Benign · 1 Benign/Likely benign · 37 Likely benign · 89 Uncertain significance
Full SIRT1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 79
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 67
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- SIRT1 p.Gly149Asp Uncertain significance Multiple submitters
- SIRT1 p.His473Tyr Uncertain significance Multiple submitters
- SIRT1 p.Lys430Arg Uncertain significance Multiple submitters
- SIRT1 p.Ala20Thr Uncertain significance Single submitter
- SIRT1 p.Ala281Thr Uncertain significance Single submitter
- SIRT1 p.Ala354Val Uncertain significance Single submitter
- SIRT1 p.Ala522Val Uncertain significance Single submitter
- SIRT1 p.Ala5Ser Uncertain significance Single submitter
- SIRT1 p.Arg112Pro Uncertain significance Single submitter
- SIRT1 p.Arg112Trp Uncertain significance Single submitter
- SIRT1 p.Arg384Gln Uncertain significance Single submitter
- SIRT1 p.Arg636Gln Uncertain significance Single submitter
- SIRT1 p.Arg711Thr Uncertain significance Single submitter
- SIRT1 p.Asn587Ile Uncertain significance Single submitter
- SIRT1 p.Asn602Ser Uncertain significance Single submitter
- SIRT1 p.Asn700His Uncertain significance Single submitter
- SIRT1 p.Asn700Ser Uncertain significance Single submitter
- SIRT1 p.Asn728Thr Uncertain significance Single submitter
- SIRT1 p.Asp118Gly Uncertain significance Single submitter
- SIRT1 p.Asp216Val Uncertain significance Single submitter
- SIRT1 p.Asp305His Uncertain significance Single submitter
- SIRT1 p.Asp401Glu Uncertain significance Single submitter
- SIRT1 p.Asp567Val Uncertain significance Single submitter
- SIRT1 p.Asp720Asn Uncertain significance Single submitter
- SIRT1 p.Asp723Glu Uncertain significance Single submitter
- SIRT1 p.Gln357His Uncertain significance Single submitter
- SIRT1 p.Gln390Arg Uncertain significance Single submitter
- SIRT1 p.Glu131Gly Uncertain significance Single submitter
- SIRT1 p.Glu230Val Uncertain significance Single submitter
- SIRT1 p.Glu416Gln Uncertain significance Single submitter
- SIRT1 p.Glu703Asp Uncertain significance Single submitter
- SIRT1 p.Glu736Lys Uncertain significance Single submitter
- SIRT1 p.Gly604Ser Uncertain significance Single submitter
- SIRT1 p.His653Arg Uncertain significance Single submitter
- SIRT1 p.Ile182Met Uncertain significance Single submitter
- SIRT1 p.Ile194Val Uncertain significance Single submitter
- SIRT1 p.Ile210Leu Uncertain significance Single submitter
- SIRT1 p.Ile299Thr Uncertain significance Single submitter
- SIRT1 p.Ile360Val Uncertain significance Single submitter
- SIRT1 p.Ile439Thr Uncertain significance Single submitter
- SIRT1 p.Ile552Thr Uncertain significance Single submitter
- SIRT1 p.Leu146Val Uncertain significance Single submitter
- SIRT1 p.Leu524Phe Uncertain significance Single submitter
- SIRT1 p.Lys499Asn Uncertain significance Single submitter
- SIRT1 p.Met595Val Uncertain significance Single submitter
- SIRT1 p.Met689Arg Uncertain significance Single submitter
- SIRT1 p.Met689Lys Uncertain significance Single submitter
- SIRT1 p.Met689Val Uncertain significance Single submitter
- SIRT1 p.Pro37Ala Uncertain significance Single submitter
- SIRT1 p.Pro399Ser Uncertain significance Single submitter
- SIRT1 p.Pro419Thr Uncertain significance Single submitter
- SIRT1 p.Pro504Thr Uncertain significance Single submitter
- SIRT1 p.Pro683Leu Uncertain significance Single submitter
- SIRT1 p.Pro688His Uncertain significance Single submitter
- SIRT1 p.Ser111Phe Uncertain significance Single submitter
- SIRT1 p.Ser159Pro Uncertain significance Single submitter
- SIRT1 p.Ser333Leu Uncertain significance Single submitter
- SIRT1 p.Ser442Cys Uncertain significance Single submitter
- SIRT1 p.Ser539Arg Uncertain significance Single submitter
- SIRT1 p.Ser634Gly Uncertain significance Single submitter
- SIRT1 p.Ser677Asn Uncertain significance Single submitter
- SIRT1 p.Thr186Ser Uncertain significance Single submitter
- SIRT1 p.Thr349Met Uncertain significance Single submitter
- SIRT1 p.Val657Ile Uncertain significance Single submitter
- SIRT1 p.Val665Asp Uncertain significance Single submitter
- SIRT1 p.Val665Ile Uncertain significance Single submitter
-
SIRT1 p.Leu107Pro
Uncertain significance
No assertion criteria
Variant of unknown significance
Predictors split 12
The independent predictors disagree with each other — read with care.
- SIRT1 p.Arg179Gly Uncertain significance Multiple submitters
- SIRT1 p.Ala425Gly Uncertain significance Single submitter
- SIRT1 p.Arg636Trp Uncertain significance Single submitter
- SIRT1 p.Asp245Glu Uncertain significance Single submitter
- SIRT1 p.Asp277Asn Uncertain significance Single submitter
- SIRT1 p.Ile411Val Uncertain significance Single submitter
- SIRT1 p.Leu325Phe Uncertain significance Single submitter
- SIRT1 p.Lys375Asn Uncertain significance Single submitter
- SIRT1 p.Met193Thr Uncertain significance Single submitter
- SIRT1 p.Pro211Thr Uncertain significance Single submitter
- SIRT1 p.Pro468Ser Uncertain significance Single submitter
- SIRT1 p.Pro646Thr Uncertain significance Single submitter
All SIRT1 variants
Benign 9
- c.942+7T>C Multiple submitters
- p.Leu332= Multiple submitters
- c.1091-20T>C Single submitter
- c.1916-9G>T Single submitter
- p.Ala354= Single submitter
- p.Arg341His Single submitter
- p.Asp664= Single submitter
- p.Glu536Lys Single submitter
- p.Pro403= Single submitter
Benign/Likely benign 1
- p.Pro114Gln Multiple submitters
Likely benign 37
- c.1090+12T>G Single submitter
- c.1090+16A>G Single submitter
- c.1358-10C>G Single submitter
- c.1358-13C>G Single submitter
- c.1915+16G>A Single submitter
- c.1916-10T>C Single submitter
- c.1916-12A>G Single submitter
- c.547+18T>A Single submitter
- c.548-10C>G Single submitter
- c.548-11C>T Single submitter
- c.790-10C>T Single submitter
- p.Ala135= Single submitter
- p.Arg181= Single submitter
- p.Arg282= Single submitter
- p.Asn119= Single submitter
- p.Asp660= Single submitter
- p.Gln320= Single submitter
- p.Glu252= Single submitter
- p.His170Arg Single submitter
- p.Ile731Val Single submitter
- p.Leu107= Single submitter
- p.Leu120Phe Single submitter
- p.Leu220= Single submitter
- p.Leu339= Single submitter
- p.Leu500= Single submitter
- p.Lys328= Single submitter
- p.Met595Thr Single submitter
- p.Met689Leu Single submitter
- p.Phe187= Single submitter
- p.Pro212= Single submitter
- p.Pro470= Single submitter
- p.Ser14= Single submitter
- p.Ser26= Single submitter
- p.Ser370= Single submitter
- p.Thr219= Single submitter
- p.Tyr699= Single submitter
- p.Val484= Single submitter
Uncertain significance 89
- p.Arg179Gly Multiple submitters ⚠
- p.Gly149Asp Multiple submitters ⚠
- p.His473Tyr Multiple submitters ⚠
- p.Lys430Arg Multiple submitters ⚠
- p.Ala139del Single submitter
- p.Ala139dup Single submitter
- p.Ala20Thr Single submitter ⚠
- p.Ala281Thr Single submitter ⚠
- p.Ala354Val Single submitter ⚠
- p.Ala425Gly Single submitter ⚠
- p.Ala522Val Single submitter ⚠
- p.Ala5Ser Single submitter ⚠
- p.Arg112Pro Single submitter ⚠
- p.Arg112Trp Single submitter ⚠
- p.Arg384Gln Single submitter ⚠
- p.Arg636Gln Single submitter ⚠
- p.Arg636Trp Single submitter ⚠
- p.Arg711Thr Single submitter ⚠
- p.Asn587Ile Single submitter ⚠
- p.Asn602Ser Single submitter ⚠
- p.Asn700His Single submitter ⚠
- p.Asn700Ser Single submitter ⚠
- p.Asn728Thr Single submitter ⚠
- p.Asp118Gly Single submitter ⚠
- p.Asp126_Asp127del Single submitter
- p.Asp127_Glu128insAspAsp Single submitter
- p.Asp127dup Single submitter
- p.Asp216Val Single submitter ⚠
- p.Asp245Glu Single submitter ⚠
- p.Asp277Asn Single submitter ⚠
- p.Asp305His Single submitter ⚠
- p.Asp401Glu Single submitter ⚠
- p.Asp567Val Single submitter ⚠
- p.Asp720Asn Single submitter ⚠
- p.Asp723Glu Single submitter ⚠
- p.Gln357His Single submitter ⚠
- p.Gln390Arg Single submitter ⚠
- p.Glu131Gly Single submitter ⚠
- p.Glu165del Single submitter
- p.Glu230Val Single submitter ⚠
- p.Glu416Gln Single submitter ⚠
- p.Glu536del Single submitter
- p.Glu703Asp Single submitter ⚠
- p.Glu736Lys Single submitter ⚠
- p.Gly604Ser Single submitter ⚠
- p.His653Arg Single submitter ⚠
- p.Ile182Met Single submitter ⚠
- p.Ile194Val Single submitter ⚠
- p.Ile210Leu Single submitter ⚠
- p.Ile299Thr Single submitter ⚠
- p.Ile360Val Single submitter ⚠
- p.Ile411Val Single submitter ⚠
- p.Ile439Thr Single submitter ⚠
- p.Ile552Thr Single submitter ⚠
- p.Leu146Val Single submitter ⚠
- p.Leu147del Single submitter
- p.Leu325Phe Single submitter ⚠
- p.Leu524Phe Single submitter ⚠
- p.Lys375Asn Single submitter ⚠
- p.Lys375Ter Single submitter
- p.Lys499Asn Single submitter ⚠
- p.Lys746fs Single submitter
- p.Met193Thr Single submitter ⚠
- p.Met595Val Single submitter ⚠
- p.Met689Arg Single submitter ⚠
- p.Met689Lys Single submitter ⚠
- p.Met689Val Single submitter ⚠
- p.Pro211Thr Single submitter ⚠
- p.Pro37Ala Single submitter ⚠
- p.Pro399Ser Single submitter ⚠
- p.Pro419Thr Single submitter ⚠
- p.Pro468Ser Single submitter ⚠
- p.Pro504Thr Single submitter ⚠
- p.Pro646Thr Single submitter ⚠
- p.Pro683Leu Single submitter ⚠
- p.Pro688His Single submitter ⚠
- p.Ser111Phe Single submitter ⚠
- p.Ser159Pro Single submitter ⚠
- p.Ser333Leu Single submitter ⚠
- p.Ser442Cys Single submitter ⚠
- p.Ser539Arg Single submitter ⚠
- p.Ser634Gly Single submitter ⚠
- p.Ser677Asn Single submitter ⚠
- p.Thr186Ser Single submitter ⚠
- p.Thr349Met Single submitter ⚠
- p.Val657Ile Single submitter ⚠
- p.Val665Asp Single submitter ⚠
- p.Val665Ile Single submitter ⚠
- p.Leu107Pro No assertion criteria Variant of unknown significance ⚠