Sugi Variant

Sugi Variant/RNPC3

RNPC3 — 103 ClinVar variants

All ClinVar germline RNPC3 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 72 flagged for review →

10 Pathogenic · 2 Likely pathogenic · 1 Conflicting · 4 Benign · 10 Likely benign · 76 Uncertain significance

Full RNPC3 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 72

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 64

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

Predictors split 8

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

All RNPC3 variants

Pathogenic 10

  • p.Arg205Ter Single submitter isolated growth hormone deficiency, type 5
  • c.624+1G>T No assertion criteria Decreased response to growth hormone stimulation test
  • p.Arg502Ter No assertion criteria isolated growth hormone deficiency, type 5
  • p.Gln87Ter No assertion criteria isolated growth hormone deficiency, type 5
  • p.Gly148Ala No assertion criteria isolated growth hormone deficiency, type 5 ⚠
  • p.Leu483Phe No assertion criteria isolated growth hormone deficiency, type 5
  • p.Leu88fs No assertion criteria isolated growth hormone deficiency, type 5
  • p.Phe410Val No assertion criteria isolated growth hormone deficiency, type 5
  • p.Pro474fs No assertion criteria isolated growth hormone deficiency, type 5
  • p.Pro474Thr No assertion criteria isolated growth hormone deficiency, type 5

Likely pathogenic 2

  • c.894-2A>G Multiple submitters isolated growth hormone deficiency, type 5
  • p.Asn347fs Single submitter isolated growth hormone deficiency, type 5

Conflicting classifications of pathogenicity 1

Benign 4

  • c.359+16A>G Multiple submitters isolated growth hormone deficiency, type 5
  • p.Gly114= Multiple submitters isolated growth hormone deficiency, type 5
  • c.1046-7C>G Single submitter
  • p.Asp60Glu No assertion criteria RNPC3-related disorder

Likely benign 10

Uncertain significance 76