Sugi Variant

Sugi Variant/NOP10

NOP10 — 75 ClinVar variants

All ClinVar germline NOP10 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 27 flagged for review →

1 Pathogenic · 3 Conflicting · 9 Benign · 5 Benign/Likely benign · 17 Likely benign · 40 Uncertain significance

Full NOP10 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 27

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 1

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

Predictors lean, ClinVar uncertain 20

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

Predictors split 6

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

All NOP10 variants

Pathogenic 1

  • p.Thr16Met No assertion criteria cataracts, hearing impairment, nephrotic syndrome, and enterocolitis 2

Conflicting classifications of pathogenicity 3

  • c.55-9C>T Single submitter hereditary neoplastic syndrome
  • p.Asp12His Single submitter dyskeratosis congenita, autosomal recessive 1 ⚠
  • p.Leu17= Single submitter dyskeratosis congenita, autosomal recessive 1

Benign 9

Benign/Likely benign 5

  • c.55-10C>A Multiple submitters dyskeratosis congenita, autosomal recessive 1
  • c.55-11T>C Multiple submitters dyskeratosis congenita, autosomal recessive 1
  • c.*129G>A Multiple submitters dyskeratosis congenita, autosomal recessive 1
  • c.*136T>C Multiple submitters dyskeratosis congenita, autosomal recessive 1
  • c.*149G>A Multiple submitters dyskeratosis congenita, autosomal recessive 1

Likely benign 17

  • c.54+16_54+17del Multiple submitters dyskeratosis congenita, autosomal recessive 1
  • c.55-125A>G Multiple submitters
  • c.*41dup Multiple submitters
  • p.Arg34= Multiple submitters dyskeratosis congenita, autosomal recessive 1
  • p.Asn8= Multiple submitters dyskeratosis congenita, autosomal recessive 1
  • c.54+10G>C Single submitter dyskeratosis congenita, autosomal recessive 1
  • c.54+19_54+29del Single submitter dyskeratosis congenita, autosomal recessive 1
  • c.54+19del Single submitter dyskeratosis congenita, autosomal recessive 1
  • c.55-10C>T Single submitter dyskeratosis congenita, autosomal recessive 1
  • p.Asp39= Single submitter
  • p.Gln25= Single submitter dyskeratosis congenita, autosomal recessive 1
  • p.Glu9= Single submitter dyskeratosis congenita, autosomal recessive 1
  • p.Leu55= Single submitter dyskeratosis congenita, autosomal recessive 1
  • p.Lys50= Single submitter dyskeratosis congenita, autosomal recessive 1
  • p.Thr27= Single submitter dyskeratosis congenita, autosomal recessive 1
  • p.Tyr41= Single submitter dyskeratosis congenita, autosomal recessive 1
  • p.Val14= Single submitter dyskeratosis congenita, autosomal recessive 1

Uncertain significance 40

  • p.Gln25His Multiple submitters dyskeratosis congenita, autosomal recessive 1 ⚠
  • p.Gly11Arg Multiple submitters pulmonary fibrosis and/or bone marrow failure syndrome, telomere-related, 9 ⚠
  • c.54+6G>A Single submitter dyskeratosis congenita, autosomal recessive 1
  • c.-101C>G Single submitter dyskeratosis congenita, autosomal recessive 1
  • c.*108T>C Single submitter dyskeratosis congenita, autosomal recessive 1
  • c.*132T>G Single submitter dyskeratosis congenita, autosomal recessive 1
  • c.*172T>G Single submitter dyskeratosis congenita, autosomal recessive 1
  • c.*184A>G Single submitter dyskeratosis congenita, autosomal recessive 1
  • c.*80C>T Single submitter dyskeratosis congenita, autosomal recessive 1
  • p.Ala30Asp Single submitter dyskeratosis congenita, autosomal recessive 1 ⚠
  • p.Ala30Gly Single submitter dyskeratosis congenita, autosomal recessive 1 ⚠
  • p.Arg43Gln Single submitter dyskeratosis congenita, autosomal recessive 1
  • p.Arg43Gly Single submitter dyskeratosis congenita, autosomal recessive 1 ⚠
  • p.Arg51Cys Single submitter dyskeratosis congenita, autosomal recessive 1 ⚠
  • p.Arg61Cys Single submitter dyskeratosis congenita, autosomal recessive 1 ⚠
  • p.Asn8Lys Single submitter ⚠
  • p.Asp12Glu Single submitter dyskeratosis congenita, autosomal recessive 1 ⚠
  • p.Gln26fs Single submitter dyskeratosis congenita, autosomal recessive 1
  • p.Gln4Arg Single submitter dyskeratosis congenita, autosomal recessive 1 ⚠
  • p.Gln4Ter Single submitter dyskeratosis congenita, autosomal recessive 1
  • p.Gln58Arg Single submitter dyskeratosis congenita, autosomal recessive 1 ⚠
  • p.Gln58His Single submitter dyskeratosis congenita, autosomal recessive 1 ⚠
  • p.Glu9Asp Single submitter dyskeratosis congenita, autosomal recessive 1 ⚠
  • p.Glu9Lys Single submitter cataracts, hearing impairment, nephrotic syndrome, and enterocolitis 2 ⚠
  • p.His31Arg Single submitter dyskeratosis congenita, autosomal recessive 1 ⚠
  • p.His31Tyr Single submitter dyskeratosis congenita, autosomal recessive 1 ⚠
  • p.Ile48fs Single submitter dyskeratosis congenita, autosomal recessive 1
  • p.Leu3fs Single submitter dyskeratosis congenita, autosomal recessive 1
  • p.Lys18Gln Single submitter ⚠
  • p.Phe52Leu Single submitter dyskeratosis congenita, autosomal recessive 1 ⚠
  • p.Pro22Gln Single submitter ⚠
  • p.Pro22Ser Single submitter dyskeratosis congenita ⚠
  • p.Pro32Arg Single submitter dyskeratosis congenita, autosomal recessive 1 ⚠
  • p.Pro60Leu Single submitter dyskeratosis congenita, autosomal recessive 1 ⚠
  • p.Pro62Leu Single submitter dyskeratosis congenita, autosomal recessive 1 ⚠
  • p.Tyr41fs Single submitter dyskeratosis congenita, autosomal recessive 1
  • p.Tyr5His Single submitter dyskeratosis congenita ⚠
  • p.Tyr6Asp Single submitter dyskeratosis congenita ⚠
  • p.Val14Cys Single submitter dyskeratosis congenita, autosomal recessive 1
  • p.Val54Gly Single submitter dyskeratosis congenita, autosomal recessive 1 ⚠