Sugi Variant

Sugi Variant/SYNE4

SYNE4 — 351 ClinVar variants

All ClinVar germline SYNE4 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 108 flagged for review →

19 Pathogenic · 9 Pathogenic/Likely pathogenic · 15 Likely pathogenic · 20 Conflicting · 14 Benign · 9 Benign/Likely benign · 161 Likely benign · 104 Uncertain significance

Full SYNE4 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 108

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 12

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

Predictors lean, ClinVar uncertain 94

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

Predictors split 2

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

All SYNE4 variants

Pathogenic 19

Pathogenic/Likely pathogenic 9

  • c.972+1G>A Multiple submitters autosomal recessive nonsyndromic hearing loss 76
  • p.Ala87fs Multiple submitters SYNE4-related disorder
  • p.Arg148Ter Multiple submitters SYNE4-related disorder
  • p.Arg187Ter Multiple submitters Rare genetic deafness
  • p.Glu221fs Multiple submitters autosomal recessive nonsyndromic hearing loss 76
  • p.Ser41fs Multiple submitters SYNE4-related disorder
  • p.Trp236fs Multiple submitters
  • p.Trp77fs Multiple submitters autosomal recessive nonsyndromic hearing loss 76
  • p.Val33fs Multiple submitters autosomal recessive nonsyndromic hearing loss 76

Likely pathogenic 15

  • c.618+2T>A Multiple submitters autosomal recessive nonsyndromic hearing loss 76
  • c.973-2A>T Multiple submitters nonsyndromic genetic hearing loss
  • p.Gly126fs Multiple submitters autosomal recessive nonsyndromic hearing loss 76
  • p.Leu218Ter Multiple submitters autosomal recessive nonsyndromic hearing loss 76
  • c.(?_1 Single submitter Rare genetic deafness
  • c.128+1G>A Single submitter autosomal recessive nonsyndromic hearing loss 76
  • c.618+1G>A Single submitter
  • c.868-2A>G Single submitter
  • c.972+2T>A Single submitter
  • c.972+2T>G Single submitter autosomal recessive nonsyndromic hearing loss 76
  • p.Gln144Ter Single submitter autosomal recessive nonsyndromic hearing loss 76
  • p.Gln46Ter Single submitter autosomal recessive nonsyndromic hearing loss 76
  • p.Glu248fs Single submitter autosomal recessive nonsyndromic hearing loss 76
  • p.Glu340Ter Single submitter autosomal recessive nonsyndromic hearing loss 76
  • p.Gly51fs Single submitter SYNE4-related disorder

Conflicting classifications of pathogenicity 20

Benign 14

Benign/Likely benign 9

Likely benign 161

Uncertain significance 104