SETDB1 — 64 ClinVar variants
All ClinVar germline SETDB1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 36 flagged for review →
5 Benign · 1 Benign/Likely benign · 17 Likely benign · 41 Uncertain significance
Full SETDB1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 36
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 26
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- SETDB1 p.Arg1244Leu Uncertain significance Single submitter
- SETDB1 p.Arg611Gln Uncertain significance Single submitter
- SETDB1 p.Asn245Asp Uncertain significance Single submitter
- SETDB1 p.Asn421Ser Uncertain significance Single submitter
- SETDB1 p.Asn515Lys Uncertain significance Single submitter
- SETDB1 p.Asp947Asn Uncertain significance Single submitter
- SETDB1 p.Gln162His Uncertain significance Single submitter
- SETDB1 p.Gln413Arg Uncertain significance Single submitter
- SETDB1 p.Gln705Glu Uncertain significance Single submitter
- SETDB1 p.Glu1044Gln Uncertain significance Single submitter
- SETDB1 p.Glu942Gln Uncertain significance Single submitter
- SETDB1 p.Gly206Asp Uncertain significance Single submitter
- SETDB1 p.Gly34Ser Uncertain significance Single submitter
- SETDB1 p.Gly686Arg Uncertain significance Single submitter
- SETDB1 p.His1084Arg Uncertain significance Single submitter
- SETDB1 p.His504Arg Uncertain significance Single submitter
- SETDB1 p.Leu747Ile Uncertain significance Single submitter
- SETDB1 p.Lys1150Asn Uncertain significance Single submitter
- SETDB1 p.Lys687Arg Uncertain significance Single submitter
- SETDB1 p.Pro119Leu Uncertain significance Single submitter
- SETDB1 p.Pro316Ala Uncertain significance Single submitter
- SETDB1 p.Pro5Leu Uncertain significance Single submitter
- SETDB1 p.Pro899Ala Uncertain significance Single submitter
- SETDB1 p.Ser992Thr Uncertain significance Single submitter
- SETDB1 p.Thr403Ile Uncertain significance Single submitter
- SETDB1 p.Val260Ala Uncertain significance Single submitter
Predictors split 10
The independent predictors disagree with each other — read with care.
- SETDB1 p.Leu1170Arg Uncertain significance Single submitter
- SETDB1 p.Lys1179Thr Uncertain significance Single submitter
- SETDB1 p.Lys670Asn Uncertain significance Single submitter
- SETDB1 p.Lys710Asn Uncertain significance Single submitter
- SETDB1 p.Met154Thr Uncertain significance Single submitter
- SETDB1 p.Met792Ile Uncertain significance Single submitter
- SETDB1 p.Phe647Leu Uncertain significance Single submitter
- SETDB1 p.Ser1228Asn Uncertain significance Single submitter
- SETDB1 p.Tyr565His Uncertain significance Single submitter
- SETDB1 p.Val1248Met Uncertain significance Single submitter
All SETDB1 variants
Benign 5
- p.Ala1022Val Multiple submitters
- p.Pro469= Multiple submitters
- c.1140+39dup Single submitter
- p.Ala1091Val Single submitter
- p.Gly1259= Single submitter
Benign/Likely benign 1
- p.Pro530Leu Multiple submitters
Likely benign 17
- c.261-3T>C Multiple submitters
- p.Pro978Leu Multiple submitters
- c.2216+8G>C Single submitter
- c.413-9C>T Single submitter
- c.447+3A>G Single submitter
- p.Ala1128= Single submitter
- p.Arg143= Single submitter
- p.Gly554= Single submitter
- p.Gly758= Single submitter
- p.Leu105= Single submitter
- p.Leu241= Single submitter
- p.Leu953= Single submitter
- p.Pro447Ser Single submitter
- p.Pro756= Single submitter
- p.Thr184= Single submitter
- p.Thr217= Single submitter
- p.Thr320= Single submitter
Uncertain significance 41
- c.674-2A>G Single submitter
- p.Ala482fs Single submitter
- p.Arg1244Leu Single submitter ⚠
- p.Arg611Gln Single submitter ⚠
- p.Asn245Asp Single submitter ⚠
- p.Asn421Ser Single submitter ⚠
- p.Asn515Lys Single submitter ⚠
- p.Asp947Asn Single submitter ⚠
- p.Gln162His Single submitter ⚠
- p.Gln413Arg Single submitter ⚠
- p.Gln705Glu Single submitter ⚠
- p.Glu1044Gln Single submitter ⚠
- p.Glu942Gln Single submitter ⚠
- p.Gly206Asp Single submitter ⚠
- p.Gly34Ser Single submitter ⚠
- p.Gly686Arg Single submitter ⚠
- p.His1084Arg Single submitter ⚠
- p.His504Arg Single submitter ⚠
- p.Ile713Leu Single submitter
- p.Leu1170Arg Single submitter ⚠
- p.Leu747Ile Single submitter ⚠
- p.Lys1150Asn Single submitter ⚠
- p.Lys1179Thr Single submitter ⚠
- p.Lys670Asn Single submitter ⚠
- p.Lys687Arg Single submitter ⚠
- p.Lys710Asn Single submitter ⚠
- p.Met154Thr Single submitter ⚠
- p.Met792Ile Single submitter ⚠
- p.Phe647Leu Single submitter ⚠
- p.Pro119Leu Single submitter ⚠
- p.Pro316Ala Single submitter ⚠
- p.Pro5Leu Single submitter ⚠
- p.Pro899Ala Single submitter ⚠
- p.Ser1228Asn Single submitter ⚠
- p.Ser499Phe Single submitter
- p.Ser992Thr Single submitter ⚠
- p.Thr1263fs Single submitter
- p.Thr403Ile Single submitter ⚠
- p.Tyr565His Single submitter ⚠
- p.Val1248Met Single submitter ⚠
- p.Val260Ala Single submitter ⚠