UQCC2 — 79 ClinVar variants
All ClinVar germline UQCC2 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 29 flagged for review →
2 Pathogenic · 3 Conflicting · 11 Benign · 1 Benign/Likely benign · 24 Likely benign · 38 Uncertain significance
Full UQCC2 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 29
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 vs ClinVar 1
ClinVar calls these pathogenic, but the computational predictors lean tolerated — the highest-value review flag.
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UQCC2 p.Arg34Gln
Pathogenic
No assertion criteria
mitochondrial complex III deficiency nuclear type 7
Predictors lean, ClinVar uncertain 17
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
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UQCC2 p.Ala38Thr
Uncertain significance
Multiple submitters
mitochondrial complex III deficiency nuclear type 7
- UQCC2 p.Ala61Val Uncertain significance Multiple submitters
-
UQCC2 p.Ala116Val
Uncertain significance
Single submitter
mitochondrial complex III deficiency nuclear type 7
- UQCC2 p.Ala38Val Uncertain significance Single submitter
- UQCC2 p.Arg40Gln Uncertain significance Single submitter
- UQCC2 p.Asn66Tyr Uncertain significance Single submitter
-
UQCC2 p.Cys13Arg
Uncertain significance
Single submitter
mitochondrial complex III deficiency nuclear type 7
- UQCC2 p.Gln33Lys Uncertain significance Single submitter
-
UQCC2 p.Gln55His
Uncertain significance
Single submitter
mitochondrial complex III deficiency nuclear type 7
- UQCC2 p.Glu87Asp Uncertain significance Single submitter
- UQCC2 p.Gly119Asp Uncertain significance Single submitter
- UQCC2 p.His64Asn Uncertain significance Single submitter
- UQCC2 p.Leu85Phe Uncertain significance Single submitter
-
UQCC2 p.Met56Thr
Uncertain significance
Single submitter
mitochondrial complex III deficiency nuclear type 7
- UQCC2 p.Ser84Leu Uncertain significance Single submitter
- UQCC2 p.Trp16Arg Uncertain significance Single submitter
- UQCC2 p.Val35Ile Uncertain significance Single submitter
Predictors split 11
The independent predictors disagree with each other — read with care.
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UQCC2 p.Ala2Thr
Uncertain significance
Multiple submitters
mitochondrial complex III deficiency nuclear type 7
- UQCC2 p.Glu15Asp Likely benign Multiple submitters
- UQCC2 p.Thr21Pro Uncertain significance Multiple submitters
- UQCC2 p.Ala3Pro Uncertain significance Single submitter
- UQCC2 p.Arg23Trp Uncertain significance Single submitter
- UQCC2 p.Arg25Gln Uncertain significance Single submitter
-
UQCC2 p.Leu10Phe
Uncertain significance
Single submitter
mitochondrial complex III deficiency nuclear type 7
- UQCC2 p.Lys11Glu Uncertain significance Single submitter
- UQCC2 p.Phe115Leu Uncertain significance Single submitter
- UQCC2 p.Phe39Leu Uncertain significance Single submitter
- UQCC2 p.Ser4Arg Uncertain significance Single submitter
All UQCC2 variants
Pathogenic 2
- c.214-3C>G No assertion criteria mitochondrial complex III deficiency nuclear type 7
- p.Arg34Gln No assertion criteria mitochondrial complex III deficiency nuclear type 7 ⚠
Conflicting classifications of pathogenicity 3
- c.138+6C>T Single submitter
- p.Arg34= Single submitter
- p.Leu97= Single submitter
Benign 11
- p.Glu41= Multiple submitters
- p.Lys118Arg Multiple submitters
- c.138+265T>C Single submitter
- c.138+87G>T Single submitter
- c.214-224G>A Single submitter
- c.214-80T>C Single submitter
- c.283+183C>T Single submitter
- c.283+256C>A Single submitter
- c.-344T>C Single submitter
- c.*112C>T Single submitter
- c.*16C>T Single submitter
Benign/Likely benign 1
- p.Pro75= Multiple submitters mitochondrial complex III deficiency nuclear type 7
Likely benign 24
- c.284-127A>G Multiple submitters
- p.Arg25= Multiple submitters mitochondrial complex III deficiency nuclear type 7
- p.Glu15Asp Multiple submitters ⚠
- p.Met107Ile Multiple submitters mitochondrial complex III deficiency nuclear type 7
- c.138+138C>A Single submitter
- c.138+18G>A Single submitter
- c.138+260A>G Single submitter
- c.139-10T>C Single submitter
- c.139-151A>G Single submitter
- c.139-243G>A Single submitter
- c.213+20_213+21del Single submitter
- c.214-10C>T Single submitter
- c.214-16C>G Single submitter
- c.214-20C>T Single submitter
- c.214-48G>T Single submitter
- c.284-109_284-108del Single submitter
- c.284-182C>T Single submitter
- c.284-19_284-18del Single submitter
- c.284-98G>A Single submitter
- c.-16A>G Single submitter
- p.Arg74= Single submitter
- p.Gly24= Single submitter
- p.His124= Single submitter
- p.Ser84= Single submitter
Uncertain significance 38
- c.214-9G>A Multiple submitters mitochondrial complex III deficiency nuclear type 7
- c.283+3A>C Multiple submitters mitochondrial complex III deficiency nuclear type 7
- p.Ala2Thr Multiple submitters mitochondrial complex III deficiency nuclear type 7 ⚠
- p.Ala38Thr Multiple submitters mitochondrial complex III deficiency nuclear type 7 ⚠
- p.Ala61Val Multiple submitters ⚠
- p.Gln46= Multiple submitters mitochondrial complex III deficiency nuclear type 7
- p.Thr21Pro Multiple submitters ⚠
- c.214-3C>T Single submitter
- c.214-6G>A Single submitter mitochondrial complex III deficiency nuclear type 7
- c.-2A>C Single submitter
- p.Ala116Val Single submitter mitochondrial complex III deficiency nuclear type 7 ⚠
- p.Ala38Val Single submitter ⚠
- p.Ala3Pro Single submitter ⚠
- p.Arg23Trp Single submitter ⚠
- p.Arg25Gln Single submitter ⚠
- p.Arg40Gln Single submitter ⚠
- p.Arg5= Single submitter
- p.Asn66Tyr Single submitter ⚠
- p.Cys13Arg Single submitter mitochondrial complex III deficiency nuclear type 7 ⚠
- p.Gln33Lys Single submitter ⚠
- p.Gln55His Single submitter mitochondrial complex III deficiency nuclear type 7 ⚠
- p.Glu113del Single submitter
- p.Glu87Asp Single submitter ⚠
- p.Gly119Asp Single submitter ⚠
- p.His64Asn Single submitter ⚠
- p.Leu10Phe Single submitter mitochondrial complex III deficiency nuclear type 7 ⚠
- p.Leu85Phe Single submitter ⚠
- p.Lys110fs Single submitter mitochondrial complex III deficiency nuclear type 7
- p.Lys11Glu Single submitter ⚠
- p.Met1Ile Single submitter mitochondrial complex III deficiency nuclear type 7
- p.Met56Thr Single submitter mitochondrial complex III deficiency nuclear type 7 ⚠
- p.Phe115Leu Single submitter ⚠
- p.Phe39Leu Single submitter ⚠
- p.Pro73Leu Single submitter
- p.Ser4Arg Single submitter ⚠
- p.Ser84Leu Single submitter ⚠
- p.Trp16Arg Single submitter ⚠
- p.Val35Ile Single submitter ⚠