Sugi Variant

Sugi Variant/PTPRQ

PTPRQ — 637 ClinVar variants

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

26 Pathogenic · 5 Pathogenic/Likely pathogenic · 36 Likely pathogenic · 9 Conflicting · 136 Benign · 18 Benign/Likely benign · 124 Likely benign · 283 Uncertain significance

Full PTPRQ 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 vs ClinVar 2

ClinVar calls these pathogenic, but the computational predictors lean tolerated — the highest-value review flag.

Predictors agree, ClinVar conflicts 5

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

Predictors lean, ClinVar uncertain 125

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

Predictors split 12

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

All PTPRQ variants

Pathogenic 26

  • c.6024+2T>C Multiple submitters autosomal recessive nonsyndromic hearing loss 84A
  • p.Arg2159Ter Multiple submitters autosomal recessive nonsyndromic hearing loss 84A
  • p.Gln1336Ter Multiple submitters Monogenic hearing loss
  • p.Thr558fs Multiple submitters autosomal recessive nonsyndromic hearing loss 84A
  • c.4015+1G>A Single submitter Monogenic hearing loss
  • c.5390-1G>T Single submitter
  • c.6454-2A>G Single submitter autosomal recessive nonsyndromic hearing loss 84A
  • p.Cys97fs Single submitter Monogenic hearing loss
  • p.Gln2248Ter Single submitter hearing loss, autosomal dominant 73
  • p.Glu1208= Single submitter autosomal recessive nonsyndromic hearing loss 84A
  • p.Glu221Ter Single submitter autosomal recessive nonsyndromic hearing loss 84A
  • p.Glu909fs Single submitter autosomal recessive nonsyndromic hearing loss 84A
  • p.Met1390_Tyr1391insTer Single submitter
  • p.Phe1925fs Single submitter
  • p.Ser1609fs Single submitter
  • p.Trp1528Ter Single submitter Monogenic hearing loss
  • p.Trp76Ter Single submitter autosomal recessive nonsyndromic hearing loss 84A
  • p.Tyr1289_Lys1291delinsTer Single submitter
  • p.Tyr1623Ter Single submitter autosomal recessive nonsyndromic hearing loss 84A
  • p.Tyr279Ter Single submitter autosomal recessive nonsyndromic hearing loss 84A
  • p.Val159fs Single submitter hearing loss, autosomal recessive
  • c.3873+727A>G No assertion criteria autosomal recessive nonsyndromic hearing loss 84A
  • c.6453+2dup No assertion criteria autosomal recessive nonsyndromic hearing loss 84A
  • p.Arg239Gly No assertion criteria autosomal recessive nonsyndromic hearing loss 84A ⚠
  • p.Gln1387fs No assertion criteria autosomal recessive nonsyndromic hearing loss 84A
  • p.Gln519_Tyr520insTer No assertion criteria

Pathogenic/Likely pathogenic 5

  • c.1359+2T>C Multiple submitters autosomal recessive nonsyndromic hearing loss 84A
  • c.6025-1G>A Multiple submitters Monogenic hearing loss
  • p.Arg1747Ter Multiple submitters autosomal recessive nonsyndromic hearing loss 84A
  • c.6739-1G>A No assertion criteria hearing loss, autosomal recessive
  • p.Ile1720fs No assertion criteria hearing loss, autosomal recessive

Likely pathogenic 36

Conflicting classifications of pathogenicity 9

Benign 136

Benign/Likely benign 18

Likely benign 124

Uncertain significance 283