CLCF1 — 65 ClinVar variants
All ClinVar germline CLCF1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 34 flagged for review →
4 Pathogenic · 1 Conflicting · 4 Benign · 1 Benign/Likely benign · 14 Likely benign · 41 Uncertain significance
Full CLCF1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 34
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 agree, ClinVar conflicts 1
ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.
Predictors lean, ClinVar uncertain 25
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- CLCF1 p.Arg122His Uncertain significance Multiple submitters
- CLCF1 p.Arg130His Uncertain significance Multiple submitters
- CLCF1 p.Arg30His Uncertain significance Multiple submitters
- CLCF1 p.Ser198Leu Uncertain significance Multiple submitters
- CLCF1 p.Ala148Gly Uncertain significance Single submitter
- CLCF1 p.Arg102Gln Uncertain significance Single submitter
- CLCF1 p.Arg122Cys Uncertain significance Single submitter
- CLCF1 p.Arg122Gly Uncertain significance Single submitter
- CLCF1 p.Arg130Cys Uncertain significance Single submitter
- CLCF1 p.Arg204Gln Uncertain significance Single submitter
- CLCF1 p.Arg55His Uncertain significance Single submitter
- CLCF1 p.Asn121Ser Uncertain significance Single submitter
- CLCF1 p.Asn98Ser Uncertain significance Single submitter
- CLCF1 p.Glu108Gln Uncertain significance Single submitter
- CLCF1 p.Gly35Val Uncertain significance Single submitter
- CLCF1 p.His21Tyr Uncertain significance Single submitter
- CLCF1 p.Leu28Phe Uncertain significance Single submitter
- CLCF1 p.Lys200Arg Uncertain significance Single submitter
- CLCF1 p.Met11Ile Uncertain significance Single submitter
- CLCF1 p.Pro163Ser Uncertain significance Single submitter
- CLCF1 p.Ser8Pro Uncertain significance Single submitter
- CLCF1 p.Thr138Ile Uncertain significance Single submitter
- CLCF1 p.Thr60Ile Uncertain significance Single submitter
- CLCF1 p.Val150Ile Uncertain significance Single submitter
- CLCF1 p.Val25Met Uncertain significance Single submitter
Predictors split 8
The independent predictors disagree with each other — read with care.
- CLCF1 p.Pro38Ser Uncertain significance Multiple submitters
- CLCF1 p.Arg48Cys Uncertain significance Single submitter
- CLCF1 p.Arg48His Uncertain significance Single submitter
- CLCF1 p.Asp73Ala Uncertain significance Single submitter
- CLCF1 p.Glu71Lys Uncertain significance Single submitter
- CLCF1 p.Ile40Thr Uncertain significance Single submitter
- CLCF1 p.Pro167Arg Uncertain significance Single submitter
- CLCF1 p.Tyr110His Uncertain significance Single submitter
All CLCF1 variants
Pathogenic 4
- p.Arg197Leu No assertion criteria cold-induced sweating syndrome 2
- p.Cys16Arg No assertion criteria cold-induced sweating syndrome 2
- p.Ter226Arg No assertion criteria cold-induced sweating syndrome 2
- p.Tyr107Ter No assertion criteria cold-induced sweating syndrome 2
Conflicting classifications of pathogenicity 1
- p.Arg131His Single submitter ⚠
Benign 4
- c.183+14G>A Multiple submitters
- p.Gly221fs Multiple submitters
- p.Pro161Ser Multiple submitters
- p.Pro36= Multiple submitters
Benign/Likely benign 1
- p.Ser8= Multiple submitters
Likely benign 14
- p.Arg30Cys Multiple submitters
- p.Glu92= Multiple submitters
- c.183+15T>G Single submitter
- p.Ala174= Single submitter
- p.Arg95Gln Single submitter
- p.Asp2= Single submitter
- p.Gln123= Single submitter
- p.Leu129= Single submitter
- p.Leu97= Single submitter
- p.Ser198= Single submitter
- p.Thr217= Single submitter
- p.Val93= Single submitter
- p.Asp183= No assertion criteria CLCF1-related disorder
- p.Val25= No assertion criteria CLCF1-related disorder
Uncertain significance 41
- p.Arg122His Multiple submitters ⚠
- p.Arg130His Multiple submitters ⚠
- p.Arg30His Multiple submitters ⚠
- p.Pro38Ser Multiple submitters ⚠
- p.Ser198Leu Multiple submitters ⚠
- c.*5T>A Single submitter
- p.Ala148Gly Single submitter ⚠
- p.Ala148Val Single submitter
- p.Arg102Gln Single submitter ⚠
- p.Arg122Cys Single submitter ⚠
- p.Arg122Gly Single submitter ⚠
- p.Arg130Cys Single submitter ⚠
- p.Arg204Gln Single submitter ⚠
- p.Arg48Cys Single submitter ⚠
- p.Arg48His Single submitter ⚠
- p.Arg55Cys Single submitter cold-induced sweating syndrome 2
- p.Arg55His Single submitter ⚠
- p.Arg78Leu Single submitter
- p.Asn121Ser Single submitter ⚠
- p.Asn98Ser Single submitter ⚠
- p.Asp73Ala Single submitter ⚠
- p.Glu108Gln Single submitter ⚠
- p.Glu71Lys Single submitter ⚠
- p.Gly35Val Single submitter ⚠
- p.His21Tyr Single submitter ⚠
- p.Ile40Thr Single submitter ⚠
- p.Leu120Phe Single submitter
- p.Leu28Phe Single submitter ⚠
- p.Leu62Val Single submitter
- p.Lys200Arg Single submitter ⚠
- p.Met11Ile Single submitter ⚠
- p.Met1Leu Single submitter
- p.Pro163Ser Single submitter ⚠
- p.Pro167Arg Single submitter ⚠
- p.Ser8Leu Single submitter
- p.Ser8Pro Single submitter ⚠
- p.Thr138Ile Single submitter ⚠
- p.Thr60Ile Single submitter ⚠
- p.Tyr110His Single submitter ⚠
- p.Val150Ile Single submitter ⚠
- p.Val25Met Single submitter ⚠