UBA5 — 41 ClinVar variants
All ClinVar germline UBA5 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 7 flagged for review →
3 Pathogenic · 3 Pathogenic/Likely pathogenic · 9 Likely pathogenic · 3 Conflicting · 1 Benign · 16 Likely benign · 6 Uncertain significance
Full UBA5 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 7
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 vs ClinVar 1
ClinVar calls these pathogenic, but the computational predictors lean tolerated — the highest-value review flag.
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UBA5 p.Val260Met
Likely pathogenic
Single submitter
developmental and epileptic encephalopathy, 44
Predictors lean, ClinVar uncertain 2
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
-
UBA5 p.Pro140Arg
Uncertain significance
Multiple submitters
developmental and epileptic encephalopathy, 44
-
UBA5 p.Ile97Thr
Uncertain significance
Single submitter
developmental and epileptic encephalopathy, 44
Predictors split 4
The independent predictors disagree with each other — read with care.
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UBA5 p.Val154Met
Uncertain significance
Multiple submitters
developmental and epileptic encephalopathy, 44
-
UBA5 p.Arg11Gln
Uncertain significance
Single submitter
developmental and epileptic encephalopathy, 44
- UBA5 p.Lys242Asn Uncertain significance Single submitter
- UBA5 p.Ser253Thr Likely pathogenic Single submitter
All UBA5 variants
Pathogenic 3
- p.Arg55His Multiple submitters developmental and epileptic encephalopathy, 44
- c.1131+2T>C Single submitter
- p.Met1Val Single submitter developmental and epileptic encephalopathy, 44
Pathogenic/Likely pathogenic 3
- p.Arg188Ter Multiple submitters UBA5-related disorder
- p.Arg61Ter Multiple submitters UBA5-related disorder
- p.Leu254Pro Multiple submitters UBA5-related disorder
Likely pathogenic 9
- p.Ala228= Multiple submitters UBA5-related disorder
- c.407+1G>T Single submitter
- c.-823C>A Single submitter developmental and epileptic encephalopathy, 44
- p.Arg94Gly Single submitter developmental and epileptic encephalopathy, 44
- p.Asp67Tyr Single submitter developmental and epileptic encephalopathy, 44
- p.Lys242fs Single submitter developmental and epileptic encephalopathy, 44
- p.Ser253Thr Single submitter ⚠
- p.Tyr68Ter Single submitter
- p.Val260Met Single submitter developmental and epileptic encephalopathy, 44 ⚠
Conflicting classifications of pathogenicity 3
- c.1025-14G>A Single submitter developmental and epileptic encephalopathy, 44
- c.162-7T>C Single submitter
- c.-823C>A Single submitter developmental and epileptic encephalopathy, 44
Benign 1
- c.1024+32T>C Multiple submitters developmental and epileptic encephalopathy, 44
Likely benign 16
- c.162-20A>T Multiple submitters
- c.948+9C>T Multiple submitters
- p.Leu92= Multiple submitters
- c.1025-17T>C Single submitter
- c.161+19C>T Single submitter
- c.161+358T>C Single submitter
- c.162-17T>C Single submitter
- c.408-12T>C Single submitter
- c.408-4T>A Single submitter
- c.685-19T>G Single submitter
- c.685-20G>C Single submitter
- c.685-6A>G Single submitter
- c.812+15A>T Single submitter
- p.Ala130= Single submitter
- p.Arg188= Single submitter
- p.Leu177= Single submitter
Uncertain significance 6
- p.Pro140Arg Multiple submitters developmental and epileptic encephalopathy, 44 ⚠
- p.Val154Met Multiple submitters developmental and epileptic encephalopathy, 44 ⚠
- p.Arg11Gln Single submitter developmental and epileptic encephalopathy, 44 ⚠
- p.Glu395fs Single submitter developmental and epileptic encephalopathy, 44
- p.Ile97Thr Single submitter developmental and epileptic encephalopathy, 44 ⚠
- p.Lys242Asn Single submitter ⚠