Sugi Variant

Sugi Variant/ANO10

ANO10 — 541 ClinVar variants

All ClinVar germline ANO10 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 140 flagged for review →

42 Pathogenic · 14 Pathogenic/Likely pathogenic · 17 Likely pathogenic · 36 Conflicting · 46 Benign · 11 Benign/Likely benign · 216 Likely benign · 159 Uncertain significance

Full ANO10 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 140

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 agree, ClinVar conflicts 12

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

Predictors lean, ClinVar uncertain 105

ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.

Predictors split 23

The independent predictors disagree with each other — read with care.

All ANO10 variants

Pathogenic 42

Pathogenic/Likely pathogenic 14

  • c.1163-9A>G Multiple submitters autosomal recessive spinocerebellar ataxia 10
  • c.1218+1G>C Multiple submitters
  • c.139+1G>T Multiple submitters autosomal recessive spinocerebellar ataxia 10
  • c.472+1G>T Multiple submitters
  • c.473-2A>G Multiple submitters autosomal recessive spinocerebellar ataxia 10
  • p.Asn374fs Multiple submitters autosomal recessive spinocerebellar ataxia 10
  • p.Glu353Ter Multiple submitters autosomal recessive spinocerebellar ataxia 10
  • p.Lys42Ter Multiple submitters autosomal recessive spinocerebellar ataxia 10
  • p.Phe337Val Multiple submitters autosomal recessive spinocerebellar ataxia 10 ⚠
  • p.Ser329Ter Multiple submitters ANO10-related disorder
  • p.Ser587Ter Multiple submitters
  • p.Thr96_Met97insTer Multiple submitters ANO10-related disorder
  • p.Trp342Ter Multiple submitters autosomal recessive spinocerebellar ataxia 10
  • p.Tyr507fs Multiple submitters autosomal recessive spinocerebellar ataxia 10

Likely pathogenic 17

  • c.1797+1G>A Multiple submitters autosomal recessive spinocerebellar ataxia 10
  • c.473-2A>T Multiple submitters
  • c.1218+5G>A Single submitter
  • c.1293+1G>T Single submitter autosomal recessive spinocerebellar ataxia 10
  • c.140-1G>A Single submitter
  • c.1476+1G>T Single submitter autosomal recessive spinocerebellar ataxia 10
  • c.1669-2A>G Single submitter
  • p.Ala520fs Single submitter autosomal recessive spinocerebellar ataxia 10
  • p.Asn570fs Single submitter autosomal recessive spinocerebellar ataxia 10
  • p.Cys513Arg Single submitter autosomal recessive spinocerebellar ataxia 10
  • p.Gln49Ter Single submitter autosomal recessive spinocerebellar ataxia 10
  • p.Gln579Ter Single submitter autosomal recessive spinocerebellar ataxia 10
  • p.Glu393fs Single submitter
  • p.Met1Val Single submitter autosomal recessive spinocerebellar ataxia 10
  • p.Phe204Cys Single submitter ⚠
  • p.Trp34Ter Single submitter autosomal recessive spinocerebellar ataxia 10
  • p.Tyr194fs Single submitter autosomal recessive spinocerebellar ataxia 10

Conflicting classifications of pathogenicity 36

  • c.1162+1G>A Single submitter autosomal recessive spinocerebellar ataxia 10
  • c.1294-3del Single submitter
  • c.1669-2A>T Single submitter autosomal recessive spinocerebellar ataxia 10
  • c.1798-12_1798-9del Single submitter
  • c.1914+3G>A Single submitter autosomal recessive spinocerebellar ataxia 10
  • c.337+1G>A Single submitter autosomal recessive spinocerebellar ataxia 10
  • c.338-11T>C Single submitter autosomal recessive spinocerebellar ataxia 10
  • c.338-2A>G Single submitter autosomal recessive spinocerebellar ataxia 10
  • c.473-1G>A Single submitter autosomal recessive spinocerebellar ataxia 10
  • c.473-6G>A Single submitter autosomal recessive spinocerebellar ataxia 10
  • c.*179C>T Single submitter autosomal recessive spinocerebellar ataxia 10
  • c.*447G>A Single submitter autosomal recessive spinocerebellar ataxia 10
  • p.Ala420= Single submitter
  • p.Ala520Val Single submitter autosomal recessive spinocerebellar ataxia 10 ⚠
  • p.Arg103Lys Single submitter Inborn genetic diseases ⚠
  • p.Arg189Gln Single submitter ⚠
  • p.Arg378Gln Single submitter autosomal recessive spinocerebellar ataxia 10 ⚠
  • p.Asn267Asp Single submitter autosomal recessive spinocerebellar ataxia 10 ⚠
  • p.Asn570= Single submitter autosomal recessive spinocerebellar ataxia 10
  • p.Asp338Asn Single submitter autosomal recessive spinocerebellar ataxia 10 ⚠
  • p.Asp615Asn Single submitter autosomal recessive spinocerebellar ataxia 10 ⚠
  • p.Glu30Gln Single submitter autosomal recessive spinocerebellar ataxia 10 ⚠
  • p.Leu210= Single submitter
  • p.Leu316= Single submitter
  • p.Lys641= Single submitter autosomal recessive spinocerebellar ataxia 10
  • p.Met1Leu Single submitter autosomal recessive spinocerebellar ataxia 10
  • p.Met1Thr Single submitter autosomal recessive spinocerebellar ataxia 10
  • p.Met622Val Single submitter Inborn genetic diseases ⚠
  • p.Met652Val Single submitter autosomal recessive spinocerebellar ataxia 10 ⚠
  • p.Phe15= Single submitter
  • p.Phe171Ser Single submitter autosomal recessive spinocerebellar ataxia 10 ⚠
  • p.Thr163Met Single submitter ⚠
  • p.Tyr217Cys Single submitter ⚠
  • p.Tyr327Cys Single submitter autosomal recessive spinocerebellar ataxia 10 ⚠
  • p.Tyr379= Single submitter
  • p.Val467= Single submitter autosomal recessive spinocerebellar ataxia 10

Benign 46

Benign/Likely benign 11

Likely benign 216

Uncertain significance 159