Sugi Variant

Sugi Variant/POLA1

POLA1 — 893 ClinVar variants

All ClinVar germline POLA1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 465 flagged for review →

6 Pathogenic · 6 Likely pathogenic · 27 Conflicting · 70 Benign · 26 Benign/Likely benign · 305 Likely benign · 453 Uncertain significance

Full POLA1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 465

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 5

ClinVar calls these pathogenic, but the computational predictors lean tolerated — the highest-value review flag.

Predictors agree, ClinVar conflicts 15

ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.

Predictors lean, ClinVar uncertain 231

ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification. · showing the 150 best-reviewed of 231

Predictors split 214

The independent predictors disagree with each other — read with care. · showing the 150 best-reviewed of 214

All POLA1 variants

Pathogenic 6

  • c.1393-354A>G Multiple submitters X-linked reticulate pigmentary disorder
  • c.445_507del No assertion criteria X-linked intellectual disability, van Esch type
  • c.525+1G>A No assertion criteria X-linked intellectual disability, van Esch type
  • p.Gly116Arg No assertion criteria X-linked intellectual disability, van Esch type ⚠
  • p.Ile85Ser No assertion criteria X-linked intellectual disability, van Esch type
  • p.Pro1387Leu No assertion criteria X-linked intellectual disability, van Esch type ⚠

Likely pathogenic 6

  • p.Ile707Met Multiple submitters High myopia, early-onset ⚠
  • c.463-2A>G Single submitter X-linked intellectual disability, van Esch type
  • p.Arg622Gly Single submitter inherited aplastic anemia
  • p.Asp403Asn Single submitter X-linked intellectual disability, van Esch type ⚠
  • p.Leu543Ile Single submitter inherited aplastic anemia ⚠
  • p.Tyr1152Cys Single submitter inherited aplastic anemia

Conflicting classifications of pathogenicity 27

Benign 70

Benign/Likely benign 26

Likely benign 305

Showing the top 300 by review status; the full set is in the sitemap.

Uncertain significance 453

Showing the top 300 by review status; the full set is in the sitemap.