Sugi Variant

Sugi Variant/STRC

STRC — 373 ClinVar variants

All ClinVar germline STRC variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 186 flagged for review →

42 Pathogenic · 11 Pathogenic/Likely pathogenic · 25 Likely pathogenic · 18 Conflicting · 22 Benign · 11 Benign/Likely benign · 48 Likely benign · 196 Uncertain significance

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

⚑ Evidence disagreements 186

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 1

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

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 144

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

Predictors split 31

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

All STRC variants

Pathogenic 42

  • p.Arg1073Ter Multiple submitters Monogenic hearing loss
  • p.Arg1224Ter Multiple submitters Rare genetic deafness
  • p.Arg1468Ter Multiple submitters Rare genetic deafness
  • p.Arg1729Ter Multiple submitters STRC-related disorder
  • p.Cys1599fs Multiple submitters autosomal recessive nonsyndromic hearing loss 16
  • p.Gln1308Ter Multiple submitters autosomal recessive nonsyndromic hearing loss 16
  • p.Gln1353Ter Multiple submitters STRC-related disorder
  • p.Glu1399Ter Multiple submitters Rare genetic deafness
  • p.Glu1613Ter Multiple submitters autosomal recessive nonsyndromic hearing loss 16
  • p.Pro154fs Multiple submitters deafness-infertility syndrome
  • p.Val724fs Multiple submitters autosomal recessive nonsyndromic hearing loss 16
  • c.(?_1 Single submitter hearing loss disorder
  • c.(?_3499 Single submitter hearing loss disorder
  • c.3499_4701+1del Single submitter autosomal recessive nonsyndromic hearing loss 16
  • c.3794+1G>A Single submitter
  • c.(?_3795 Single submitter Rare genetic deafness
  • c.4375+1G>A Single submitter Rare genetic deafness
  • c.(?_4702 Single submitter Rare genetic deafness
  • p.Ala1593Val Single submitter STRC-related disorder
  • p.Ala1664fs Single submitter
  • p.Arg127Ter Single submitter Rare genetic deafness
  • p.Arg1521fs Single submitter Monogenic hearing loss
  • p.Arg344Ter Single submitter nonsyndromic genetic hearing loss
  • p.Arg849Ter Single submitter autosomal recessive nonsyndromic hearing loss 16
  • p.Gln1165Ter Single submitter Rare genetic deafness
  • p.Gln1236Ter Single submitter
  • p.Gln1607Ter Single submitter autosomal recessive nonsyndromic hearing loss 16
  • p.Gln195Ter Single submitter autosomal recessive nonsyndromic hearing loss 16
  • p.Gln410Ter Single submitter nonsyndromic sensorineural hearing loss
  • p.Gln87Ter Single submitter Rare genetic deafness
  • p.Glu1275Ter Single submitter autosomal recessive nonsyndromic hearing loss 16
  • p.Glu1320Ter Single submitter autosomal recessive nonsyndromic hearing loss 16
  • p.Gly1366Ter Single submitter autosomal recessive nonsyndromic hearing loss 16
  • p.Gly1539fs Single submitter Monogenic hearing loss
  • p.Ile1203fs Single submitter Rare genetic deafness
  • p.Leu1606fs Single submitter autosomal recessive nonsyndromic hearing loss 16
  • p.Leu786fs Single submitter Rare genetic deafness
  • p.Phe1495fs Single submitter autosomal recessive nonsyndromic hearing loss 16
  • p.Trp1162fs Single submitter Rare genetic deafness
  • p.Tyr362Ter Single submitter Rare genetic deafness
  • p.Cys1053fs No assertion criteria autosomal recessive nonsyndromic hearing loss 16
  • p.Gln1201Ter No assertion criteria

Pathogenic/Likely pathogenic 11

Likely pathogenic 25

  • p.Gln1559Ter Multiple submitters autosomal recessive nonsyndromic hearing loss 16
  • c.3306+1G>A Single submitter
  • c.4702-2A>C Single submitter Rare genetic deafness
  • p.Arg1406fs Single submitter autosomal recessive nonsyndromic hearing loss 16
  • p.Arg1468Pro Single submitter STRC-related disorder ⚠
  • p.Asp921fs Single submitter STRC-related disorder
  • p.Cys590Arg Single submitter autosomal recessive nonsyndromic hearing loss 16 ⚠
  • p.Gln1421Ter Single submitter STRC-related disorder
  • p.Gln1437Ter Single submitter STRC-related disorder
  • p.Gln1515Ter Single submitter autosomal recessive nonsyndromic hearing loss 16
  • p.Gln87fs Single submitter STRC-related disorder
  • p.Gly1518Cys Single submitter autosomal recessive nonsyndromic hearing loss 16
  • p.Gly1645Arg Single submitter STRC-related disorder
  • p.Gly645fs Single submitter STRC-related disorder
  • p.Gly667fs Single submitter autosomal recessive nonsyndromic hearing loss 16
  • p.Leu490Pro Single submitter autosomal recessive nonsyndromic hearing loss 16 ⚠
  • p.Leu581fs Single submitter autosomal recessive nonsyndromic hearing loss 16
  • p.Leu714Pro Single submitter Rare genetic deafness
  • p.Met1483Arg Single submitter
  • p.Pro1043fs Single submitter autosomal recessive nonsyndromic hearing loss 16
  • p.Pro1327fs Single submitter STRC-related disorder
  • p.Trp715Ter Single submitter deafness dystonia syndrome
  • c.64+1_3138+1del No assertion criteria autosomal recessive nonsyndromic hearing loss 16
  • p.Gln1186fs No assertion criteria autosomal recessive nonsyndromic hearing loss 16
  • p.Gly1522Ter No assertion criteria autosomal recessive nonsyndromic hearing loss 16

Conflicting classifications of pathogenicity 18

Benign 22

Benign/Likely benign 11

  • c.4127+8C>T Multiple submitters autosomal recessive nonsyndromic hearing loss 16
  • p.Arg1521Gln Multiple submitters
  • p.Arg1521Trp Multiple submitters
  • p.Cys1120= Multiple submitters autosomal recessive nonsyndromic hearing loss 16
  • p.Gly111= Multiple submitters
  • p.Leu1180= Multiple submitters autosomal recessive nonsyndromic hearing loss 16
  • p.Leu1639= Multiple submitters autosomal recessive nonsyndromic hearing loss 16
  • p.Phe60Ser Multiple submitters autosomal recessive nonsyndromic hearing loss 16
  • p.Pro166= Multiple submitters autosomal recessive nonsyndromic hearing loss 16
  • p.Ser1615= Multiple submitters autosomal recessive nonsyndromic hearing loss 16
  • p.Trp1734Arg Multiple submitters autosomal recessive nonsyndromic hearing loss 16

Likely benign 48

Uncertain significance 196