Sugi Variant

Sugi Variant/IGSF1

IGSF1 — 301 ClinVar variants

All ClinVar germline IGSF1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 146 flagged for review →

24 Pathogenic · 1 Pathogenic/Likely pathogenic · 9 Likely pathogenic · 4 Conflicting · 34 Benign · 3 Benign/Likely benign · 81 Likely benign · 145 Uncertain significance

Full IGSF1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 146

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 3

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 38

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

All IGSF1 variants

Pathogenic 24

  • p.Arg1184Ter Multiple submitters X-linked central congenital hypothyroidism with late-onset testicular enlargement
  • p.Arg613delinsGlyArgThrTer Multiple submitters Inborn genetic diseases
  • c.2896+1del Single submitter
  • c.70+1G>A Single submitter
  • p.Arg1264Ter Single submitter X-linked central congenital hypothyroidism with late-onset testicular enlargement
  • p.Arg794Ter Single submitter IGSF1-related disorder
  • p.Arg992Ter Single submitter Pituitary hormone deficiency
  • p.Gln1255Ter Single submitter
  • p.Gln725fs Single submitter Inborn genetic diseases
  • p.Gly1015Ter Single submitter
  • p.Gly154fs Single submitter X-linked central congenital hypothyroidism with late-onset testicular enlargement
  • p.Leu768Pro Single submitter X-linked central congenital hypothyroidism with late-onset testicular enlargement
  • p.Pro779fs Single submitter Paediatric disorders
  • p.Trp135fs Single submitter X-linked central congenital hypothyroidism with late-onset testicular enlargement
  • p.Trp595Ter Single submitter
  • p.Tyr715Ter Single submitter X-linked central congenital hypothyroidism with late-onset testicular enlargement
  • p.Val89fs Single submitter Pituitary hormone deficiency
  • p.Ala708_Lys716del No assertion criteria X-linked central congenital hypothyroidism with late-onset testicular enlargement
  • p.Arg757fs No assertion criteria X-linked central congenital hypothyroidism with late-onset testicular enlargement
  • p.Glu1195fs No assertion criteria X-linked central congenital hypothyroidism with late-onset testicular enlargement
  • p.Glu745fs No assertion criteria X-linked central congenital hypothyroidism with late-onset testicular enlargement
  • p.Gly656Arg No assertion criteria ⚠
  • p.Ser858Phe No assertion criteria X-linked central congenital hypothyroidism with late-onset testicular enlargement
  • p.Trp972Ter No assertion criteria X-linked central congenital hypothyroidism with late-onset testicular enlargement

Pathogenic/Likely pathogenic 1

  • p.His803fs Multiple submitters X-linked central congenital hypothyroidism with late-onset testicular enlargement

Likely pathogenic 9

  • c.1646+2del Single submitter IGSF1-related disorders
  • c.2042-1_2042del Single submitter X-linked central congenital hypothyroidism with late-onset testicular enlargement
  • c.380-1G>A Single submitter X-linked central congenital hypothyroidism with late-onset testicular enlargement
  • p.Arg1290Ter Single submitter X-linked central congenital hypothyroidism with late-onset testicular enlargement
  • p.Arg442Ter Single submitter
  • p.Thr680fs Single submitter X-linked central congenital hypothyroidism with late-onset testicular enlargement
  • p.Trp538Ter Single submitter X-linked central congenital hypothyroidism with late-onset testicular enlargement
  • p.Tyr940Ter Single submitter X-linked central congenital hypothyroidism with late-onset testicular enlargement
  • p.Tyr945Ter Single submitter IGSF1-related disorders

Conflicting classifications of pathogenicity 4

Benign 34

Benign/Likely benign 3

  • c.668-8G>A Multiple submitters hypothyroidism due to TSH receptor mutations
  • p.Arg544Trp Multiple submitters
  • p.Asn381His Multiple submitters X-linked central congenital hypothyroidism with late-onset testicular enlargement

Likely benign 81

Uncertain significance 145