Sugi Variant

Sugi Variant/IGFALS

IGFALS — 327 ClinVar variants

All ClinVar germline IGFALS variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 201 flagged for review →

2 Pathogenic · 1 Pathogenic/Likely pathogenic · 10 Likely pathogenic · 20 Conflicting · 12 Benign · 6 Benign/Likely benign · 51 Likely benign · 225 Uncertain significance

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

⚑ Evidence disagreements 201

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 10

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

Predictors lean, ClinVar uncertain 134

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

Predictors split 57

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

All IGFALS variants

Pathogenic 2

  • p.Leu134Gln Single submitter Monogenic short statue
  • p.Cys540Arg No assertion criteria short stature due to primary acid-labile subunit deficiency

Pathogenic/Likely pathogenic 1

  • p.Glu35fs Multiple submitters IGFALS-related disorder

Likely pathogenic 10

  • p.Asn276Ser Multiple submitters short stature due to primary acid-labile subunit deficiency
  • p.Trp431fs Multiple submitters
  • p.Ala92fs Single submitter Monogenic short statue
  • p.Glu567fs Single submitter Monogenic short statue
  • p.Leu290fs Single submitter short stature due to primary acid-labile subunit deficiency
  • p.Met1Lys Single submitter short stature due to primary acid-labile subunit deficiency
  • p.Phe602Cys Single submitter IGFALS-related disorder
  • p.Pro555fs Single submitter Monogenic short statue
  • p.Ser112fs Single submitter short stature due to primary acid-labile subunit deficiency
  • p.Trp431Ter Single submitter

Conflicting classifications of pathogenicity 20

  • p.Ala212Thr Single submitter Inborn genetic diseases ⚠
  • p.Ala355= Single submitter short stature due to primary acid-labile subunit deficiency
  • p.Arg469His Single submitter short stature due to primary acid-labile subunit deficiency ⚠
  • p.Asp82= Single submitter Inborn genetic diseases
  • p.Gln320Ter Single submitter short stature due to primary acid-labile subunit deficiency
  • p.Glu495fs Single submitter IGFALS-related disorder
  • p.Gly399Arg Single submitter Inborn genetic diseases ⚠
  • p.Gly479Asp Single submitter short stature due to primary acid-labile subunit deficiency ⚠
  • p.Gly506Arg Single submitter short stature due to primary acid-labile subunit deficiency ⚠
  • p.Leu422= Single submitter short stature due to primary acid-labile subunit deficiency
  • p.Leu453Val Single submitter short stature due to primary acid-labile subunit deficiency ⚠
  • p.Pro146= Single submitter short stature due to primary acid-labile subunit deficiency
  • p.Pro22Leu Single submitter short stature due to primary acid-labile subunit deficiency ⚠
  • p.Pro259= Single submitter short stature due to primary acid-labile subunit deficiency
  • p.Pro287= Single submitter short stature due to primary acid-labile subunit deficiency
  • p.Pro287Leu Single submitter short stature due to primary acid-labile subunit deficiency ⚠
  • p.Pro33Leu Single submitter Inborn genetic diseases ⚠
  • p.Pro498Ser Single submitter Inborn genetic diseases ⚠
  • p.Pro73Leu Single submitter IGFALS-related disorder ⚠
  • p.Ser195_Arg197dup Single submitter IGFALS-related disorder

Benign 12

  • c.17-3C>T Multiple submitters
  • c.-19A>G Multiple submitters short stature due to primary acid-labile subunit deficiency
  • p.Ala11= Multiple submitters short stature due to primary acid-labile subunit deficiency
  • p.Ala267= Multiple submitters short stature due to primary acid-labile subunit deficiency
  • p.Ala475= Multiple submitters short stature due to primary acid-labile subunit deficiency
  • p.Asp70= Multiple submitters short stature due to primary acid-labile subunit deficiency
  • p.Leu487= Multiple submitters
  • p.Leu97Phe Multiple submitters short stature due to primary acid-labile subunit deficiency
  • p.Thr522= Multiple submitters short stature due to primary acid-labile subunit deficiency
  • p.Tyr462= Multiple submitters short stature due to primary acid-labile subunit deficiency
  • p.Ser150= Single submitter
  • c.17-52C>T No assertion criteria IGFALS-related disorder

Benign/Likely benign 6

  • c.17-10dup Multiple submitters
  • p.Arg548Trp Multiple submitters short stature due to primary acid-labile subunit deficiency ⚠
  • p.Asn236= Multiple submitters
  • p.Glu198Val Multiple submitters short stature due to primary acid-labile subunit deficiency
  • p.Leu271= Multiple submitters
  • p.Pro33= Multiple submitters short stature due to primary acid-labile subunit deficiency

Likely benign 51

Uncertain significance 225