Sugi Variant

Sugi Variant/GPSM2

GPSM2 — 339 ClinVar variants

All ClinVar germline GPSM2 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 144 flagged for review →

11 Pathogenic · 8 Pathogenic/Likely pathogenic · 21 Likely pathogenic · 20 Conflicting · 27 Benign · 12 Benign/Likely benign · 74 Likely benign · 166 Uncertain significance

Full GPSM2 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 144

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 7

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 32

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

All GPSM2 variants

Pathogenic 11

Pathogenic/Likely pathogenic 8

  • c.1062+1G>T Multiple submitters GPSM2-related disorder
  • c.1063-1G>T Multiple submitters Rare genetic deafness
  • p.Arg498Ter Multiple submitters GPSM2-related disorder
  • p.Glu361fs Multiple submitters
  • p.Gly249fs Multiple submitters GPSM2-related disorder
  • p.Ser501fs Multiple submitters Chudley-McCullough syndrome
  • p.Ser554Ter Multiple submitters Fetal anomalies with a likely genetic cause
  • p.Phe46Leu No assertion criteria hearing loss, autosomal recessive ⚠

Likely pathogenic 21

Conflicting classifications of pathogenicity 20

Benign 27

Benign/Likely benign 12

  • c.1816-8A>G Multiple submitters Chudley-McCullough syndrome
  • c.278+5T>C Multiple submitters Chudley-McCullough syndrome
  • c.279-12del Multiple submitters
  • c.954-19G>T Multiple submitters
  • c.-258C>T Multiple submitters Chudley-McCullough syndrome
  • p.Ala251= Multiple submitters Chudley-McCullough syndrome
  • p.Arg127Gln Multiple submitters Chudley-McCullough syndrome ⚠
  • p.Leu29= Multiple submitters Chudley-McCullough syndrome
  • p.Lys276= Multiple submitters Chudley-McCullough syndrome
  • p.Ser607Phe Multiple submitters
  • p.Thr457Met Multiple submitters Chudley-McCullough syndrome
  • p.Thr523del Multiple submitters Chudley-McCullough syndrome

Likely benign 74

Uncertain significance 166