UQCRC1 — 86 ClinVar variants
All ClinVar germline UQCRC1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 67 flagged for review →
2 Pathogenic · 2 Likely pathogenic · 8 Likely benign · 74 Uncertain significance
Full UQCRC1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 67
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 2
ClinVar calls these pathogenic, but the computational predictors lean tolerated — the highest-value review flag.
-
UQCRC1 p.Arg276Cys
Likely pathogenic
No assertion criteria
hypertrophic cardiomyopathy
-
UQCRC1 p.Ile311Leu
Pathogenic
No assertion criteria
parkinsonism with polyneuropathy
Predictors lean, ClinVar uncertain 46
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- UQCRC1 p.Thr101Ile Uncertain significance Multiple submitters
- UQCRC1 p.Ala232Thr Uncertain significance Single submitter
-
UQCRC1 p.Ala246Thr
Uncertain significance
Single submitter
parkinsonism with polyneuropathy
- UQCRC1 p.Ala281Val Uncertain significance Single submitter
- UQCRC1 p.Ala297Val Uncertain significance Single submitter
- UQCRC1 p.Ala332Thr Uncertain significance Single submitter
- UQCRC1 p.Ala349Ser Uncertain significance Single submitter
- UQCRC1 p.Ala438Ser Uncertain significance Single submitter
- UQCRC1 p.Ala455Thr Uncertain significance Single submitter
- UQCRC1 p.Arg228Gly Uncertain significance Single submitter
- UQCRC1 p.Arg278His Uncertain significance Single submitter
- UQCRC1 p.Arg378His Uncertain significance Single submitter
- UQCRC1 p.Arg423Cys Uncertain significance Single submitter
- UQCRC1 p.Arg432Gln Uncertain significance Single submitter
- UQCRC1 p.Arg470Gln Uncertain significance Single submitter
- UQCRC1 p.Asn469Ser Uncertain significance Single submitter
- UQCRC1 p.Asn55Lys Uncertain significance Single submitter
- UQCRC1 p.Asn55Tyr Uncertain significance Single submitter
- UQCRC1 p.Asp166Gly Uncertain significance Single submitter
- UQCRC1 p.Asp176Gly Uncertain significance Single submitter
- UQCRC1 p.Asp366Asn Uncertain significance Single submitter
- UQCRC1 p.Glu162Val Uncertain significance Single submitter
- UQCRC1 p.Gly374Glu Uncertain significance Single submitter
- UQCRC1 p.Gly414Arg Uncertain significance Single submitter
- UQCRC1 p.His402Tyr Uncertain significance Single submitter
- UQCRC1 p.Ile289Val Uncertain significance Single submitter
- UQCRC1 p.Ile444Thr Uncertain significance Single submitter
- UQCRC1 p.Ile449Leu Uncertain significance Single submitter
- UQCRC1 p.Met369Ile Uncertain significance Single submitter
- UQCRC1 p.Pro254Gln Uncertain significance Single submitter
- UQCRC1 p.Pro267Leu Uncertain significance Single submitter
- UQCRC1 p.Pro294Ala Uncertain significance Single submitter
- UQCRC1 p.Pro299Leu Uncertain significance Single submitter
- UQCRC1 p.Pro327Leu Uncertain significance Single submitter
- UQCRC1 p.Thr190Ala Uncertain significance Single submitter
- UQCRC1 p.Thr222Ile Uncertain significance Single submitter
- UQCRC1 p.Thr317Ile Uncertain significance Single submitter
- UQCRC1 p.Thr381Ala Uncertain significance Single submitter
- UQCRC1 p.Thr384Met Uncertain significance Single submitter
- UQCRC1 p.Tyr131Asp Uncertain significance Single submitter
- UQCRC1 p.Tyr219Cys Uncertain significance Single submitter
-
UQCRC1 p.Tyr318Ser
Uncertain significance
Single submitter
parkinsonism with polyneuropathy
- UQCRC1 p.Tyr468Asn Uncertain significance Single submitter
- UQCRC1 p.Val302Met Uncertain significance Single submitter
-
UQCRC1 p.Val322Met
Uncertain significance
Single submitter
parkinsonism with polyneuropathy
- UQCRC1 p.Val45Leu Uncertain significance Single submitter
Predictors split 19
The independent predictors disagree with each other — read with care.
- UQCRC1 p.Arg126Trp Uncertain significance Multiple submitters
- UQCRC1 p.Ala290Ser Uncertain significance Single submitter
- UQCRC1 p.Ala434Val Uncertain significance Single submitter
- UQCRC1 p.Arg126Gln Uncertain significance Single submitter
- UQCRC1 p.Arg213Cys Uncertain significance Single submitter
- UQCRC1 p.Arg390Gln Uncertain significance Single submitter
- UQCRC1 p.Arg396Ile Uncertain significance Single submitter
- UQCRC1 p.Arg442His Uncertain significance Single submitter
- UQCRC1 p.Asn103Tyr Uncertain significance Single submitter
- UQCRC1 p.Glu218Lys Uncertain significance Single submitter
- UQCRC1 p.Glu385Gly Uncertain significance Single submitter
-
UQCRC1 p.Leu93Phe
Uncertain significance
Single submitter
parkinsonism with polyneuropathy
- UQCRC1 p.Pro105Arg Uncertain significance Single submitter
- UQCRC1 p.Ser51Ile Uncertain significance Single submitter
- UQCRC1 p.Thr271Ile Uncertain significance Single submitter
- UQCRC1 p.Thr351Met Uncertain significance Single submitter
- UQCRC1 p.Thr68Ile Uncertain significance Single submitter
- UQCRC1 p.Val287Met Uncertain significance Single submitter
-
UQCRC1 p.Tyr314Ser
Pathogenic
No assertion criteria
parkinsonism with polyneuropathy
All UQCRC1 variants
Pathogenic 2
- p.Ile311Leu No assertion criteria parkinsonism with polyneuropathy ⚠
- p.Tyr314Ser No assertion criteria parkinsonism with polyneuropathy ⚠
Likely pathogenic 2
- p.Arg276Cys No assertion criteria hypertrophic cardiomyopathy ⚠
- p.Leu120Pro No assertion criteria parkinsonism with polyneuropathy
Likely benign 8
- c.69+20G>T Single submitter
- c.966+18C>A Single submitter
- p.Ala383= Single submitter
- p.Ala389Val Single submitter
- p.Ile311= Single submitter
- p.Ser107Asn Single submitter
- c.428-4C>G No assertion criteria UQCRC1-related disorder
- p.Asn301Ser No assertion criteria UQCRC1-related disorder
Uncertain significance 74
- p.Arg126Trp Multiple submitters ⚠
- p.Arg80His Multiple submitters parkinsonism with polyneuropathy
- p.Thr101Ile Multiple submitters ⚠
- p.Ala232Thr Single submitter ⚠
- p.Ala246Thr Single submitter parkinsonism with polyneuropathy ⚠
- p.Ala281Val Single submitter ⚠
- p.Ala290Ser Single submitter ⚠
- p.Ala297Val Single submitter ⚠
- p.Ala332Thr Single submitter ⚠
- p.Ala349Ser Single submitter ⚠
- p.Ala36_Thr37insAlaLeuArgSerThrAla Single submitter parkinsonism with polyneuropathy
- p.Ala434Val Single submitter ⚠
- p.Ala438Ser Single submitter ⚠
- p.Ala455Thr Single submitter ⚠
- p.Arg126Gln Single submitter ⚠
- p.Arg213Cys Single submitter ⚠
- p.Arg228Gly Single submitter ⚠
- p.Arg269Cys Single submitter
- p.Arg278His Single submitter ⚠
- p.Arg378His Single submitter ⚠
- p.Arg390Gln Single submitter ⚠
- p.Arg396Ile Single submitter ⚠
- p.Arg422Cys Single submitter
- p.Arg423Cys Single submitter ⚠
- p.Arg432Gln Single submitter ⚠
- p.Arg442His Single submitter ⚠
- p.Arg470Gln Single submitter ⚠
- p.Arg470Trp Single submitter
- p.Asn103Tyr Single submitter ⚠
- p.Asn469Ser Single submitter ⚠
- p.Asn55Lys Single submitter ⚠
- p.Asn55Tyr Single submitter ⚠
- p.Asp166Gly Single submitter ⚠
- p.Asp176Gly Single submitter ⚠
- p.Asp366Asn Single submitter ⚠
- p.Cys410_Glu411delinsTer Single submitter parkinsonism with polyneuropathy
- p.Glu162Val Single submitter ⚠
- p.Glu218Lys Single submitter ⚠
- p.Glu385Gly Single submitter ⚠
- p.Gly374Glu Single submitter ⚠
- p.Gly414Arg Single submitter ⚠
- p.Gly474Cys Single submitter
- p.His402Tyr Single submitter ⚠
- p.Ile289Val Single submitter ⚠
- p.Ile444Thr Single submitter ⚠
- p.Ile449Leu Single submitter ⚠
- p.Leu93Phe Single submitter parkinsonism with polyneuropathy ⚠
- p.Met369Ile Single submitter ⚠
- p.Pro105Arg Single submitter ⚠
- p.Pro141Leu Single submitter
- p.Pro196Leu Single submitter
- p.Pro254Gln Single submitter ⚠
- p.Pro267Leu Single submitter ⚠
- p.Pro294Ala Single submitter ⚠
- p.Pro299Leu Single submitter ⚠
- p.Pro327Leu Single submitter ⚠
- p.Ser51Ile Single submitter ⚠
- p.Thr190Ala Single submitter ⚠
- p.Thr222Ile Single submitter ⚠
- p.Thr271Ile Single submitter ⚠
- p.Thr317Ile Single submitter ⚠
- p.Thr351Met Single submitter ⚠
- p.Thr381Ala Single submitter ⚠
- p.Thr384Met Single submitter ⚠
- p.Thr48Met Single submitter
- p.Thr68Ile Single submitter ⚠
- p.Tyr131Asp Single submitter ⚠
- p.Tyr219Cys Single submitter ⚠
- p.Tyr318Ser Single submitter parkinsonism with polyneuropathy ⚠
- p.Tyr468Asn Single submitter ⚠
- p.Val287Met Single submitter ⚠
- p.Val302Met Single submitter ⚠
- p.Val322Met Single submitter parkinsonism with polyneuropathy ⚠
- p.Val45Leu Single submitter ⚠