CFC1 — 45 ClinVar variants
All ClinVar germline CFC1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 21 flagged for review →
2 Pathogenic · 1 Likely pathogenic · 1 Conflicting · 11 Benign · 7 Likely benign · 23 Uncertain significance
Full CFC1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 21
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 13
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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CFC1 p.Gly33Ser
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CFC1 p.Ala195Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
CFC1 p.Ala79Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
CFC1 p.Arg28Gly
Uncertain significance
Single submitter
Inborn genetic diseases
-
CFC1 p.Arg28Lys
Uncertain significance
Single submitter
heterotaxy, visceral, 2, autosomal
-
CFC1 p.Arg47Leu
Uncertain significance
Single submitter
Inborn genetic diseases
- CFC1 p.Gly111Ser Uncertain significance Single submitter
-
CFC1 p.His31Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
CFC1 p.Ile19Val
Uncertain significance
Single submitter
Inborn genetic diseases
- CFC1 p.Pro170Arg Uncertain significance Single submitter
- CFC1 p.Pro199Leu Uncertain significance Single submitter
-
CFC1 p.Pro70Leu
Uncertain significance
Single submitter
Inborn genetic diseases
-
CFC1 p.Thr54Asn
Uncertain significance
Single submitter
Inborn genetic diseases
Predictors split 8
The independent predictors disagree with each other — read with care.
- CFC1 p.Ala175Thr Benign Single submitter
- CFC1 p.Arg192His Uncertain significance Single submitter
- CFC1 p.Arg78Trp Likely benign Single submitter
-
CFC1 p.Glu72Lys
Uncertain significance
Single submitter
Inborn genetic diseases
-
CFC1 p.Phe162Leu
Benign
Single submitter
heterotaxy, visceral, 2, autosomal
-
CFC1 p.Thr12Met
Uncertain significance
Single submitter
Inborn genetic diseases
- CFC1 p.Trp68Cys Uncertain significance Single submitter
- CFC1 p.Val7Gly Uncertain significance Single submitter
All CFC1 variants
Pathogenic 2
- c.361_362+18dup No assertion criteria heterotaxy, visceral, 2, autosomal
- p.Arg112Cys No assertion criteria heterotaxy, visceral, 2, autosomal
Likely pathogenic 1
- p.Glu66fs Single submitter heterotaxy, visceral, 2, autosomal
Conflicting classifications of pathogenicity 1
- p.Ala175fs Single submitter heterotaxy, visceral, 2, autosomal
Benign 11
- p.Ala145Thr Multiple submitters heterotaxy, visceral, 2, autosomal
- p.Arg47Gln Multiple submitters
- p.Asn21= Multiple submitters
- p.Asn21His Multiple submitters
- p.Ala175Thr Single submitter ⚠
- p.Arg200= Single submitter
- p.Leu202= Single submitter
- p.Phe162Leu Single submitter heterotaxy, visceral, 2, autosomal ⚠
- p.Pro196= Single submitter
- p.Pro75= Single submitter
- p.Ser205= Single submitter
Likely benign 7
- p.Gly59Arg Multiple submitters Inborn genetic diseases
- p.Arg78Trp Single submitter ⚠
- p.Asn32Lys Single submitter Inborn genetic diseases
- p.Glu71Gln Single submitter Inborn genetic diseases
- p.Gly33= Single submitter
- p.Gly69= Single submitter Inborn genetic diseases
- p.Ser77= Single submitter
Uncertain significance 23
- p.Gly33Ser Multiple submitters Inborn genetic diseases ⚠
- p.Ala195Val Single submitter Inborn genetic diseases ⚠
- p.Ala79Thr Single submitter Inborn genetic diseases ⚠
- p.Arg192His Single submitter ⚠
- p.Arg28Gly Single submitter Inborn genetic diseases ⚠
- p.Arg28Lys Single submitter heterotaxy, visceral, 2, autosomal ⚠
- p.Arg47Leu Single submitter Inborn genetic diseases ⚠
- p.Arg87fs Single submitter
- p.Glu72Lys Single submitter Inborn genetic diseases ⚠
- p.Gly111Ser Single submitter ⚠
- p.Gly69_Pro70insGluGlyTrpGly Single submitter
- p.His31Arg Single submitter Inborn genetic diseases ⚠
- p.Ile19Val Single submitter Inborn genetic diseases ⚠
- p.Lys30fs Single submitter
- p.Pro170Arg Single submitter ⚠
- p.Pro199Leu Single submitter ⚠
- p.Pro217fs Single submitter
- p.Pro70Leu Single submitter Inborn genetic diseases ⚠
- p.Thr12= Single submitter
- p.Thr12Met Single submitter Inborn genetic diseases ⚠
- p.Thr54Asn Single submitter Inborn genetic diseases ⚠
- p.Trp68Cys Single submitter ⚠
- p.Val7Gly Single submitter ⚠