CYC1 — 172 ClinVar variants
All ClinVar germline CYC1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 94 flagged for review →
2 Pathogenic · 1 Conflicting · 11 Benign · 3 Benign/Likely benign · 54 Likely benign · 101 Uncertain significance
Full CYC1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 94
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 40
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- CYC1 p.Asp173Asn Uncertain significance Multiple submitters
- CYC1 p.Asp209Asn Uncertain significance Multiple submitters
- CYC1 p.Gly224Arg Uncertain significance Multiple submitters
- CYC1 p.Gly27Ser Uncertain significance Multiple submitters
- CYC1 p.Pro42Leu Uncertain significance Multiple submitters
- CYC1 p.Thr108Asn Uncertain significance Multiple submitters
- CYC1 p.Val12Ala Uncertain significance Multiple submitters
- CYC1 p.Ala185Val Uncertain significance Single submitter
- CYC1 p.Ala23Val Uncertain significance Single submitter
- CYC1 p.Ala297Val Uncertain significance Single submitter
- CYC1 p.Ala32Gly Uncertain significance Single submitter
- CYC1 p.Ala81Thr Uncertain significance Single submitter
- CYC1 p.Arg16Trp Uncertain significance Single submitter
- CYC1 p.Asp106Asn Uncertain significance Single submitter
- CYC1 p.Asp251Gly Uncertain significance Single submitter
- CYC1 p.Asp257His Uncertain significance Single submitter
- CYC1 p.Asp257Tyr Uncertain significance Single submitter
- CYC1 p.Cys219Arg Uncertain significance Single submitter
- CYC1 p.Gln119His Uncertain significance Single submitter
- CYC1 p.Gly10Arg Uncertain significance Single submitter
- CYC1 p.Gly157Ser Uncertain significance Single submitter
- CYC1 p.Gly191Arg Uncertain significance Single submitter
- CYC1 p.Ile266Leu Uncertain significance Single submitter
- CYC1 p.Leu87Val Uncertain significance Single submitter
- CYC1 p.Met244Thr Uncertain significance Single submitter
- CYC1 p.Met263Ile Uncertain significance Single submitter
- CYC1 p.Met296Thr Uncertain significance Single submitter
- CYC1 p.Met296Val Uncertain significance Single submitter
- CYC1 p.Pro222Ser Uncertain significance Single submitter
- CYC1 p.Ser109Thr Uncertain significance Single submitter
- CYC1 p.Ser213Phe Uncertain significance Single submitter
- CYC1 p.Ser85Gly Uncertain significance Single submitter
- CYC1 p.Thr41Ala Uncertain significance Single submitter
- CYC1 p.Tyr132Cys Uncertain significance Single submitter
- CYC1 p.Val120Leu Uncertain significance Single submitter
- CYC1 p.Val12Leu Uncertain significance Single submitter
- CYC1 p.Val300Gly Uncertain significance Single submitter
- CYC1 p.Val303Leu Uncertain significance Single submitter
- CYC1 p.Val82Glu Uncertain significance Single submitter
-
CYC1 p.Arg317Trp
Uncertain significance
No assertion criteria
mitochondrial complex III deficiency nuclear type 6
Predictors split 54
The independent predictors disagree with each other — read with care.
-
CYC1 p.Ala4Val
Uncertain significance
Multiple submitters
mitochondrial complex III deficiency nuclear type 6
- CYC1 p.Ala5Thr Uncertain significance Multiple submitters
-
CYC1 p.Arg285Gln
Uncertain significance
Multiple submitters
mitochondrial complex III deficiency nuclear type 6
- CYC1 p.Arg287His Uncertain significance Multiple submitters
- CYC1 p.Arg308Gln Uncertain significance Multiple submitters
- CYC1 p.Asn159Ser Uncertain significance Multiple submitters
- CYC1 p.Glu254Asp Uncertain significance Multiple submitters
- CYC1 p.Gly100Asp Uncertain significance Multiple submitters
- CYC1 p.Gly230Ser Uncertain significance Multiple submitters
- CYC1 p.Gly52Arg Uncertain significance Multiple submitters
- CYC1 p.His205Tyr Uncertain significance Multiple submitters
- CYC1 p.Ala243Pro Uncertain significance Single submitter
- CYC1 p.Ala243Thr Uncertain significance Single submitter
- CYC1 p.Ala245Val Uncertain significance Single submitter
- CYC1 p.Arg16Pro Uncertain significance Single submitter
- CYC1 p.Arg202Pro Uncertain significance Single submitter
- CYC1 p.Arg228Gln Uncertain significance Single submitter
- CYC1 p.Arg275His Uncertain significance Single submitter
- CYC1 p.Arg308Trp Uncertain significance Single submitter
- CYC1 p.Arg99His Uncertain significance Single submitter
- CYC1 p.Glu142Lys Uncertain significance Single submitter
- CYC1 p.Glu144Lys Uncertain significance Single submitter
- CYC1 p.Glu160Gly Uncertain significance Single submitter
- CYC1 p.Glu183Lys Uncertain significance Single submitter
- CYC1 p.Gly137Ser Uncertain significance Single submitter
- CYC1 p.Gly206Asp Uncertain significance Single submitter
- CYC1 p.Gly258Asp Uncertain significance Single submitter
- CYC1 p.Gly71Asp Uncertain significance Single submitter
- CYC1 p.His107Gln Uncertain significance Single submitter
- CYC1 p.His134Gln Uncertain significance Single submitter
- CYC1 p.His309Gln Uncertain significance Single submitter
- CYC1 p.Ile306Thr Uncertain significance Single submitter
- CYC1 p.Leu101Arg Uncertain significance Single submitter
- CYC1 p.Leu101Phe Uncertain significance Single submitter
- CYC1 p.Leu231Phe Uncertain significance Single submitter
- CYC1 p.Leu253Phe Uncertain significance Single submitter
- CYC1 p.Leu293Val Uncertain significance Single submitter
- CYC1 p.Leu47Trp Uncertain significance Single submitter
- CYC1 p.Leu8Phe Uncertain significance Single submitter
- CYC1 p.Lys318Gln Uncertain significance Single submitter
- CYC1 p.Lys325Gln Uncertain significance Single submitter
- CYC1 p.Met288Ile Uncertain significance Single submitter
- CYC1 p.Met288Val Uncertain significance Single submitter
- CYC1 p.Pro235Ser Uncertain significance Single submitter
- CYC1 p.Pro323Ser Uncertain significance Single submitter
- CYC1 p.Pro92Leu Uncertain significance Single submitter
- CYC1 p.Pro95Leu Uncertain significance Single submitter
- CYC1 p.Ser80Leu Uncertain significance Single submitter
- CYC1 p.Tyr174Cys Uncertain significance Single submitter
- CYC1 p.Tyr199Phe Uncertain significance Single submitter
- CYC1 p.Tyr304Ser Uncertain significance Single submitter
- CYC1 p.Val116Ile Uncertain significance Single submitter
- CYC1 p.Val211Ile Conflicting Single submitter
- CYC1 p.Val82Leu Uncertain significance Single submitter
All CYC1 variants
Pathogenic 2
- p.Leu215Phe Single submitter mitochondrial complex III deficiency nuclear type 6
- p.Trp96Cys No assertion criteria mitochondrial complex III deficiency nuclear type 6
Conflicting classifications of pathogenicity 1
- p.Val211Ile Single submitter ⚠
Benign 11
- c.772+19_772+20del Multiple submitters mitochondrial complex III deficiency nuclear type 6
- c.773-27T>C Multiple submitters
- p.Ala320= Multiple submitters
- p.Arg33= Multiple submitters mitochondrial complex III deficiency nuclear type 6
- p.Leu148= Multiple submitters
- p.Met76Val Multiple submitters mitochondrial complex III deficiency nuclear type 6
- c.772+18_772+37del Single submitter
- c.772+19_772+46delinsC Single submitter
- c.772+22_772+46del Single submitter
- c.772+7G>A Single submitter
- p.Met76= Single submitter
Benign/Likely benign 3
- c.326+7_326+10del Multiple submitters
- c.873+7G>A Multiple submitters mitochondrial complex III deficiency nuclear type 6
- p.Met76Thr Multiple submitters
Likely benign 54
- c.454-9C>T Multiple submitters
- c.456_461dupGGAGGT Multiple submitters
- c.772+19_772+45del Multiple submitters
- p.Ala150= Multiple submitters
- p.Arg24= Multiple submitters
- p.Glu88Asp Multiple submitters
- p.Gly162= Multiple submitters
- p.Val11= Multiple submitters
- c.129+19C>T Single submitter
- c.130-17G>T Single submitter
- c.326+15_326+16insACTG Single submitter
- c.326+7A>G Single submitter
- c.326+8GCTG[5] Single submitter
- c.327-10C>T Single submitter
- c.327-4C>G Single submitter
- c.454-7del Single submitter
- c.611+15C>T Single submitter
- c.612-16A>G Single submitter
- c.772+15G>A Single submitter
- c.772+19G>C Single submitter
- c.773-113G>A Single submitter
- c.773-18C>G Single submitter
- c.773-18C>T Single submitter
- c.773-9G>A Single submitter
- c.873+14G>A Single submitter
- c.874-15C>T Single submitter
- c.874-5T>C Single submitter
- c.*131T>C Single submitter
- p.Ala18= Single submitter
- p.Ala44= Single submitter
- p.Ala63= Single submitter
- p.Ala72= Single submitter
- p.Asp256= Single submitter
- p.Asp86= Single submitter
- p.Cys219= Single submitter
- p.Gly289= Single submitter
- p.Gly56= Single submitter
- p.Ile248= Single submitter
- p.Ile266= Single submitter
- p.Leu171= Single submitter
- p.Leu227= Single submitter
- p.Leu39= Single submitter
- p.Leu64= Single submitter
- p.Leu87= Single submitter
- p.Phe172= Single submitter
- p.Phe237= Single submitter
- p.Pro194= Single submitter
- p.Pro280= Single submitter
- p.Pro323= Single submitter
- p.Ser109= Single submitter
- p.Thr223= Single submitter
- p.Tyr199= Single submitter
- p.Tyr210= Single submitter
- p.Val270= Single submitter
Uncertain significance 101
- p.Ala4Val Multiple submitters mitochondrial complex III deficiency nuclear type 6 ⚠
- p.Ala5Thr Multiple submitters ⚠
- p.Arg285Gln Multiple submitters mitochondrial complex III deficiency nuclear type 6 ⚠
- p.Arg287His Multiple submitters ⚠
- p.Arg308Gln Multiple submitters ⚠
- p.Asn159Ser Multiple submitters ⚠
- p.Asp173Asn Multiple submitters ⚠
- p.Asp209Asn Multiple submitters ⚠
- p.Glu254Asp Multiple submitters ⚠
- p.Gly100Asp Multiple submitters ⚠
- p.Gly224Arg Multiple submitters ⚠
- p.Gly230Ser Multiple submitters ⚠
- p.Gly27Ser Multiple submitters ⚠
- p.Gly52Arg Multiple submitters ⚠
- p.His205Tyr Multiple submitters ⚠
- p.Leu102del Multiple submitters
- p.Pro42Leu Multiple submitters ⚠
- p.Thr108Asn Multiple submitters ⚠
- p.Val12Ala Multiple submitters ⚠
- p.Val201= Multiple submitters
- c.326+1G>C Single submitter
- c.772+2dup Single submitter
- c.874-19G>A Single submitter
- p.Ala185Val Single submitter ⚠
- p.Ala23Val Single submitter ⚠
- p.Ala243Pro Single submitter ⚠
- p.Ala243Thr Single submitter ⚠
- p.Ala245Val Single submitter ⚠
- p.Ala297Val Single submitter ⚠
- p.Ala32Gly Single submitter ⚠
- p.Ala81Thr Single submitter ⚠
- p.Arg16Pro Single submitter ⚠
- p.Arg16Trp Single submitter ⚠
- p.Arg202Pro Single submitter ⚠
- p.Arg228Gln Single submitter ⚠
- p.Arg275His Single submitter ⚠
- p.Arg308Trp Single submitter ⚠
- p.Arg99His Single submitter ⚠
- p.Asp106Asn Single submitter ⚠
- p.Asp251Gly Single submitter ⚠
- p.Asp257His Single submitter ⚠
- p.Asp257Tyr Single submitter ⚠
- p.Cys219Arg Single submitter ⚠
- p.Gln119His Single submitter ⚠
- p.Glu142Lys Single submitter ⚠
- p.Glu144Lys Single submitter ⚠
- p.Glu160Gly Single submitter ⚠
- p.Glu183Lys Single submitter ⚠
- p.Gly100= Single submitter
- p.Gly10Arg Single submitter ⚠
- p.Gly137Ser Single submitter ⚠
- p.Gly157Ser Single submitter ⚠
- p.Gly191Arg Single submitter ⚠
- p.Gly206Asp Single submitter ⚠
- p.Gly258Asp Single submitter ⚠
- p.Gly71Asp Single submitter ⚠
- p.His107Gln Single submitter ⚠
- p.His134Gln Single submitter ⚠
- p.His309Gln Single submitter ⚠
- p.Ile266Leu Single submitter ⚠
- p.Ile306Thr Single submitter ⚠
- p.Leu101Arg Single submitter ⚠
- p.Leu101Phe Single submitter ⚠
- p.Leu231Phe Single submitter ⚠
- p.Leu253Phe Single submitter ⚠
- p.Leu293Val Single submitter ⚠
- p.Leu47Trp Single submitter ⚠
- p.Leu87Val Single submitter ⚠
- p.Leu8Phe Single submitter ⚠
- p.Lys318Gln Single submitter ⚠
- p.Lys325Gln Single submitter ⚠
- p.Met244Thr Single submitter ⚠
- p.Met263Ile Single submitter ⚠
- p.Met288Ile Single submitter ⚠
- p.Met288Val Single submitter ⚠
- p.Met296Thr Single submitter ⚠
- p.Met296Val Single submitter ⚠
- p.Pro222Ser Single submitter ⚠
- p.Pro235Ser Single submitter ⚠
- p.Pro323Ser Single submitter ⚠
- p.Pro92Leu Single submitter ⚠
- p.Pro95Leu Single submitter ⚠
- p.Ser109Thr Single submitter ⚠
- p.Ser213Phe Single submitter ⚠
- p.Ser80Leu Single submitter ⚠
- p.Ser85Gly Single submitter ⚠
- p.Ser93fs Single submitter
- p.Thr216= Single submitter
- p.Thr41Ala Single submitter ⚠
- p.Tyr132Cys Single submitter ⚠
- p.Tyr174Cys Single submitter ⚠
- p.Tyr199Phe Single submitter ⚠
- p.Tyr304Ser Single submitter ⚠
- p.Val116Ile Single submitter ⚠
- p.Val120Leu Single submitter ⚠
- p.Val12Leu Single submitter ⚠
- p.Val300Gly Single submitter ⚠
- p.Val303Leu Single submitter ⚠
- p.Val82Glu Single submitter ⚠
- p.Val82Leu Single submitter ⚠
- p.Arg317Trp No assertion criteria mitochondrial complex III deficiency nuclear type 6 ⚠