DNAL4 — 15 ClinVar variants
All ClinVar germline DNAL4 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 12 flagged for review →
1 Pathogenic · 1 Benign · 1 Likely benign · 12 Uncertain significance
Full DNAL4 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 12
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 8
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- DNAL4 p.Ala53Asp Uncertain significance Single submitter
- DNAL4 p.Ala98Val Uncertain significance Single submitter
- DNAL4 p.Arg15Gln Uncertain significance Single submitter
- DNAL4 p.Glu30Asp Uncertain significance Single submitter
- DNAL4 p.Leu21Val Uncertain significance Single submitter
- DNAL4 p.Ser47Pro Uncertain significance Single submitter
- DNAL4 p.Tyr92Phe Uncertain significance Single submitter
- DNAL4 p.Val71Met Uncertain significance Single submitter
Predictors split 4
The independent predictors disagree with each other — read with care.
All DNAL4 variants
Pathogenic 1
- c.153+2T>C No assertion criteria mirror movements 3
Benign 1
- p.Asp12= Multiple submitters
Likely benign 1
- p.Phe93= No assertion criteria DNAL4-related disorder
Uncertain significance 12
- p.Ala53Asp Single submitter ⚠
- p.Ala98Val Single submitter ⚠
- p.Arg15Gln Single submitter ⚠
- p.Arg32Ser Single submitter ⚠
- p.Glu30Asp Single submitter ⚠
- p.Leu21Val Single submitter ⚠
- p.Met31Val Single submitter ⚠
- p.Met56Val Single submitter ⚠
- p.Ser47Pro Single submitter ⚠
- p.Tyr90Phe Single submitter ⚠
- p.Tyr92Phe Single submitter ⚠
- p.Val71Met Single submitter ⚠