DCAF8 — 97 ClinVar variants
All ClinVar germline DCAF8 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 76 flagged for review →
1 Likely pathogenic · 1 Conflicting · 3 Benign · 2 Benign/Likely benign · 11 Likely benign · 79 Uncertain significance
Full DCAF8 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 76
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 38
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- DCAF8 p.Asn343Ser Uncertain significance Multiple submitters
- DCAF8 p.Ala146Pro Uncertain significance Single submitter
- DCAF8 p.Ala167Ser Uncertain significance Single submitter
- DCAF8 p.Ala176Ser Uncertain significance Single submitter
- DCAF8 p.Ala511Val Uncertain significance Single submitter
- DCAF8 p.Ala571Thr Uncertain significance Single submitter
- DCAF8 p.Arg225Gln Uncertain significance Single submitter
-
DCAF8 p.Arg278His
Uncertain significance
Single submitter
giant axonal neuropathy 2
-
DCAF8 p.Arg560His
Uncertain significance
Single submitter
neurofibromatosis type 1
- DCAF8 p.Arg562Gln Uncertain significance Single submitter
- DCAF8 p.Asn124Asp Uncertain significance Single submitter
- DCAF8 p.Asn124His Uncertain significance Single submitter
- DCAF8 p.Asn367Ser Uncertain significance Single submitter
- DCAF8 p.Asn370Ser Uncertain significance Single submitter
- DCAF8 p.Asn90His Uncertain significance Single submitter
- DCAF8 p.Asp316Gly Uncertain significance Single submitter
- DCAF8 p.Asp501Val Uncertain significance Single submitter
- DCAF8 p.Asp581Glu Uncertain significance Single submitter
- DCAF8 p.Asp590Glu Uncertain significance Single submitter
- DCAF8 p.Asp83Asn Uncertain significance Single submitter
- DCAF8 p.Gln554His Uncertain significance Single submitter
- DCAF8 p.Glu42Asp Uncertain significance Single submitter
- DCAF8 p.Gly191Ser Uncertain significance Single submitter
- DCAF8 p.Gly260Arg Uncertain significance Single submitter
- DCAF8 p.Gly52Arg Uncertain significance Single submitter
- DCAF8 p.Gly73Ala Uncertain significance Single submitter
- DCAF8 p.His96Arg Uncertain significance Single submitter
- DCAF8 p.Leu461Phe Uncertain significance Single submitter
- DCAF8 p.Lys236Arg Uncertain significance Single submitter
- DCAF8 p.Lys477Arg Uncertain significance Single submitter
- DCAF8 p.Pro577Ala Uncertain significance Single submitter
- DCAF8 p.Ser142Leu Uncertain significance Single submitter
- DCAF8 p.Ser166Gly Uncertain significance Single submitter
- DCAF8 p.Ser47Arg Uncertain significance Single submitter
- DCAF8 p.Thr8Arg Uncertain significance Single submitter
- DCAF8 p.Val140Leu Uncertain significance Single submitter
- DCAF8 p.Val492Met Uncertain significance Single submitter
- DCAF8 p.Val95Ile Uncertain significance Single submitter
Predictors split 38
The independent predictors disagree with each other — read with care.
- DCAF8 p.Arg117Cys Uncertain significance Multiple submitters
-
DCAF8 p.Arg122Trp
Uncertain significance
Multiple submitters
giant axonal neuropathy 2
- DCAF8 p.Ser419Asn Uncertain significance Multiple submitters
- DCAF8 p.Ser576Pro Uncertain significance Multiple submitters
- DCAF8 p.Ala146Val Uncertain significance Single submitter
- DCAF8 p.Ala388Ser Uncertain significance Single submitter
- DCAF8 p.Arg115Trp Uncertain significance Single submitter
- DCAF8 p.Arg116Cys Uncertain significance Single submitter
- DCAF8 p.Arg116His Conflicting Single submitter
- DCAF8 p.Arg117His Uncertain significance Single submitter
- DCAF8 p.Arg120His Uncertain significance Single submitter
- DCAF8 p.Arg122Gln Uncertain significance Single submitter
- DCAF8 p.Arg125Cys Likely benign Single submitter
- DCAF8 p.Arg134Trp Uncertain significance Single submitter
-
DCAF8 p.Arg151Cys
Uncertain significance
Single submitter
giant axonal neuropathy 2
- DCAF8 p.Arg151Leu Uncertain significance Single submitter
- DCAF8 p.Arg168His Uncertain significance Single submitter
- DCAF8 p.Arg184His Uncertain significance Single submitter
- DCAF8 p.Arg224Trp Uncertain significance Single submitter
- DCAF8 p.Arg352Gln Uncertain significance Single submitter
- DCAF8 p.Arg591Gln Uncertain significance Single submitter
- DCAF8 p.Asn369Ser Uncertain significance Single submitter
- DCAF8 p.Asp128Val Uncertain significance Single submitter
- DCAF8 p.Asp45Asn Uncertain significance Single submitter
- DCAF8 p.Asp581Asn Uncertain significance Single submitter
- DCAF8 p.Asp9Tyr Uncertain significance Single submitter
- DCAF8 p.Glu327Gln Uncertain significance Single submitter
- DCAF8 p.Glu40Lys Uncertain significance Single submitter
- DCAF8 p.His187Asn Uncertain significance Single submitter
- DCAF8 p.His550Arg Uncertain significance Single submitter
-
DCAF8 p.Ser320Leu
Uncertain significance
Single submitter
DCAF8-related disorder
- DCAF8 p.Ser37Leu Uncertain significance Single submitter
-
DCAF8 p.Ser576Phe
Uncertain significance
Single submitter
giant axonal neuropathy 2
- DCAF8 p.Ser99Pro Uncertain significance Single submitter
- DCAF8 p.Thr193Ile Uncertain significance Single submitter
- DCAF8 p.Thr270Ile Uncertain significance Single submitter
- DCAF8 p.Thr344Ser Uncertain significance Single submitter
- DCAF8 p.Thr51Ile Uncertain significance Single submitter
All DCAF8 variants
Likely pathogenic 1
- p.Arg317Cys Single submitter giant axonal neuropathy 2
Conflicting classifications of pathogenicity 1
- p.Arg116His Single submitter ⚠
Benign 3
- p.Arg263= Multiple submitters
- p.Glu109_Glu112del Single submitter
- p.Glu111_Glu112del Single submitter
Benign/Likely benign 2
Likely benign 11
- p.Asp214= Multiple submitters
- p.Pro148= Multiple submitters
- c.1440+8T>C Single submitter
- c.1561-12T>C Single submitter
- c.723+30G>C Single submitter
- p.Arg125Cys Single submitter ⚠
- p.Asp259= Single submitter
- p.Glu103= Single submitter
- p.Leu545= Single submitter
- p.Thr391= Single submitter
- p.Val180= No assertion criteria DCAF8-related disorder
Uncertain significance 79
- p.Arg117Cys Multiple submitters ⚠
- p.Arg122Trp Multiple submitters giant axonal neuropathy 2 ⚠
- p.Asn343Ser Multiple submitters ⚠
- p.Ser419Asn Multiple submitters ⚠
- p.Ser576Pro Multiple submitters ⚠
- c.723+43G>T Single submitter
- c.959+4A>C Single submitter
- p.Ala146Pro Single submitter ⚠
- p.Ala146Val Single submitter ⚠
- p.Ala167Ser Single submitter ⚠
- p.Ala176Ser Single submitter ⚠
- p.Ala388Ser Single submitter ⚠
- p.Ala511Val Single submitter ⚠
- p.Ala571Thr Single submitter ⚠
- p.Arg115Trp Single submitter ⚠
- p.Arg116Cys Single submitter ⚠
- p.Arg117His Single submitter ⚠
- p.Arg120His Single submitter ⚠
- p.Arg122Gln Single submitter ⚠
- p.Arg134Trp Single submitter ⚠
- p.Arg151Cys Single submitter giant axonal neuropathy 2 ⚠
- p.Arg151Leu Single submitter ⚠
- p.Arg168His Single submitter ⚠
- p.Arg184His Single submitter ⚠
- p.Arg224Trp Single submitter ⚠
- p.Arg225Gln Single submitter ⚠
- p.Arg278His Single submitter giant axonal neuropathy 2 ⚠
- p.Arg352Gln Single submitter ⚠
- p.Arg560His Single submitter neurofibromatosis type 1 ⚠
- p.Arg562Gln Single submitter ⚠
- p.Arg562Ter Single submitter
- p.Arg591Gln Single submitter ⚠
- p.Asn124Asp Single submitter ⚠
- p.Asn124His Single submitter ⚠
- p.Asn367Ser Single submitter ⚠
- p.Asn369Ser Single submitter ⚠
- p.Asn370Ser Single submitter ⚠
- p.Asn90His Single submitter ⚠
- p.Asp128Val Single submitter ⚠
- p.Asp316Gly Single submitter ⚠
- p.Asp45Asn Single submitter ⚠
- p.Asp501Val Single submitter ⚠
- p.Asp581Asn Single submitter ⚠
- p.Asp581Glu Single submitter ⚠
- p.Asp590Glu Single submitter ⚠
- p.Asp83Asn Single submitter ⚠
- p.Asp9Tyr Single submitter ⚠
- p.Gln554His Single submitter ⚠
- p.Glu327Gln Single submitter ⚠
- p.Glu40Lys Single submitter ⚠
- p.Glu42Asp Single submitter ⚠
- p.Gly191Ser Single submitter ⚠
- p.Gly260Arg Single submitter ⚠
- p.Gly52Arg Single submitter ⚠
- p.Gly73Ala Single submitter ⚠
- p.His187Asn Single submitter ⚠
- p.His550Arg Single submitter ⚠
- p.His96Arg Single submitter ⚠
- p.Ile411= Single submitter
- p.Leu461Phe Single submitter ⚠
- p.Lys236Arg Single submitter ⚠
- p.Lys477Arg Single submitter ⚠
- p.Pro577Ala Single submitter ⚠
- p.Ser130del Single submitter giant axonal neuropathy 2
- p.Ser142Leu Single submitter ⚠
- p.Ser166Gly Single submitter ⚠
- p.Ser320Leu Single submitter DCAF8-related disorder ⚠
- p.Ser37Leu Single submitter ⚠
- p.Ser47Arg Single submitter ⚠
- p.Ser576Phe Single submitter giant axonal neuropathy 2 ⚠
- p.Ser99Pro Single submitter ⚠
- p.Thr193Ile Single submitter ⚠
- p.Thr270Ile Single submitter ⚠
- p.Thr344Ser Single submitter ⚠
- p.Thr51Ile Single submitter ⚠
- p.Thr8Arg Single submitter ⚠
- p.Val140Leu Single submitter ⚠
- p.Val492Met Single submitter ⚠
- p.Val95Ile Single submitter ⚠