DCAF12L1 — 48 ClinVar variants
All ClinVar germline DCAF12L1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 35 flagged for review →
1 Likely pathogenic · 3 Benign · 10 Likely benign · 34 Uncertain significance
Full DCAF12L1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 35
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 25
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- DCAF12L1 p.Ala131Gly Uncertain significance Single submitter
- DCAF12L1 p.Ala141Thr Uncertain significance Single submitter
- DCAF12L1 p.Ala20Val Uncertain significance Single submitter
- DCAF12L1 p.Ala232Ser Uncertain significance Single submitter
- DCAF12L1 p.Ala389Thr Uncertain significance Single submitter
- DCAF12L1 p.Arg190Cys Uncertain significance Single submitter
- DCAF12L1 p.Arg360His Uncertain significance Single submitter
- DCAF12L1 p.Asn412Asp Uncertain significance Single submitter
- DCAF12L1 p.Asn437Asp Uncertain significance Single submitter
- DCAF12L1 p.Glu17Gln Uncertain significance Single submitter
- DCAF12L1 p.Gly272Asp Uncertain significance Single submitter
- DCAF12L1 p.Gly396Ala Uncertain significance Single submitter
- DCAF12L1 p.Gly64Val Uncertain significance Single submitter
- DCAF12L1 p.Gly70Asp Uncertain significance Single submitter
- DCAF12L1 p.Gly77Asp Uncertain significance Single submitter
- DCAF12L1 p.His191Arg Uncertain significance Single submitter
- DCAF12L1 p.His455Tyr Uncertain significance Single submitter
- DCAF12L1 p.Ile155Thr Uncertain significance Single submitter
- DCAF12L1 p.Ile253Val Uncertain significance Single submitter
- DCAF12L1 p.Leu298Val Uncertain significance Single submitter
- DCAF12L1 p.Lys194Arg Uncertain significance Single submitter
- DCAF12L1 p.Ser139Thr Uncertain significance Single submitter
- DCAF12L1 p.Thr96Ala Uncertain significance Single submitter
- DCAF12L1 p.Thr96Arg Uncertain significance Single submitter
- DCAF12L1 p.Tyr54Ser Uncertain significance Single submitter
Predictors split 10
The independent predictors disagree with each other — read with care.
- DCAF12L1 p.Ala52Thr Uncertain significance Single submitter
- DCAF12L1 p.Asp19Asn Uncertain significance Single submitter
- DCAF12L1 p.Asp317Gly Uncertain significance Single submitter
- DCAF12L1 p.Gly128Asp Uncertain significance Single submitter
- DCAF12L1 p.Gly453Ala Uncertain significance Single submitter
- DCAF12L1 p.Ile197Met Uncertain significance Single submitter
- DCAF12L1 p.Leu136Met Likely benign Single submitter
- DCAF12L1 p.Ser393Phe Uncertain significance Single submitter
- DCAF12L1 p.Ser50Trp Uncertain significance Single submitter
- DCAF12L1 p.Val209Met Uncertain significance Single submitter
All DCAF12L1 variants
Likely pathogenic 1
- p.Leu136fs Single submitter Male infertility with azoospermia or oligozoospermia due to single gene mutation
Likely benign 10
- p.Ala199= Single submitter
- p.Ala294Thr Single submitter
- p.Asp337Gly Single submitter
- p.Ile257Ser Single submitter
- p.Ile258Thr Single submitter
- p.Leu136Met Single submitter ⚠
- p.Leu187= Single submitter
- p.Ser108Ala Single submitter
- p.Val265= Single submitter
- p.Asp337Asn No assertion criteria
Uncertain significance 34
- p.Ala131Gly Single submitter ⚠
- p.Ala141Thr Single submitter ⚠
- p.Ala20Val Single submitter ⚠
- p.Ala232Ser Single submitter ⚠
- p.Ala389Thr Single submitter ⚠
- p.Ala52Thr Single submitter ⚠
- p.Arg190Cys Single submitter ⚠
- p.Arg360His Single submitter ⚠
- p.Asn412Asp Single submitter ⚠
- p.Asn437Asp Single submitter ⚠
- p.Asp19Asn Single submitter ⚠
- p.Asp317Gly Single submitter ⚠
- p.Glu17Gln Single submitter ⚠
- p.Gly128Asp Single submitter ⚠
- p.Gly272Asp Single submitter ⚠
- p.Gly396Ala Single submitter ⚠
- p.Gly453Ala Single submitter ⚠
- p.Gly64Val Single submitter ⚠
- p.Gly70Asp Single submitter ⚠
- p.Gly77Asp Single submitter ⚠
- p.His191Arg Single submitter ⚠
- p.His455Tyr Single submitter ⚠
- p.Ile155Thr Single submitter ⚠
- p.Ile197Met Single submitter ⚠
- p.Ile253Val Single submitter ⚠
- p.Leu298Val Single submitter ⚠
- p.Lys194Arg Single submitter ⚠
- p.Ser139Thr Single submitter ⚠
- p.Ser393Phe Single submitter ⚠
- p.Ser50Trp Single submitter ⚠
- p.Thr96Ala Single submitter ⚠
- p.Thr96Arg Single submitter ⚠
- p.Tyr54Ser Single submitter ⚠
- p.Val209Met Single submitter ⚠