Sugi Variant

Sugi Variant/MYO3A

MYO3A — 1016 ClinVar variants

All ClinVar germline MYO3A variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 471 flagged for review →

33 Pathogenic · 7 Pathogenic/Likely pathogenic · 37 Likely pathogenic · 74 Conflicting · 114 Benign · 18 Benign/Likely benign · 197 Likely benign · 536 Uncertain significance

Full MYO3A gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 471

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 27

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

Predictors lean, ClinVar uncertain 360

ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification. · showing the 150 best-reviewed of 360

Predictors split 84

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

All MYO3A variants

Pathogenic 33

Pathogenic/Likely pathogenic 7

Likely pathogenic 37

  • c.2794-1G>A Multiple submitters autosomal recessive nonsyndromic hearing loss 30
  • c.3274+1G>T Multiple submitters autosomal recessive nonsyndromic hearing loss 30
  • c.4545+1G>A Multiple submitters autosomal recessive nonsyndromic hearing loss 30
  • c.508+2T>C Multiple submitters MYO3A-related disorder
  • c.1053+2T>A Single submitter autosomal recessive nonsyndromic hearing loss 30
  • c.1563-1G>A Single submitter
  • c.168+1G>A Single submitter
  • c.168+1G>T Single submitter
  • c.2263-2A>C Single submitter Rare genetic deafness
  • c.2793+2del Single submitter
  • c.2793+2T>A Single submitter MYO3A-related disorder
  • c.3112-2A>G Single submitter MYO3A-related disorder
  • c.409-1G>A Single submitter MYO3A-related disorder
  • c.4293+1G>C Single submitter
  • c.4294-1G>T Single submitter autosomal recessive nonsyndromic hearing loss 30
  • c.4545+1G>C Single submitter Rare genetic deafness
  • c.4546-1G>A Single submitter MYO3A-related disorder
  • c.4586+1G>A Single submitter autosomal recessive nonsyndromic hearing loss 30
  • c.4586+2T>C Single submitter
  • c.953+2T>C Single submitter
  • p.Arg515Ter Single submitter autosomal recessive nonsyndromic hearing loss 30
  • p.Asn1049_Leu1050insTer Single submitter MYO3A-related disorder
  • p.Asn1128fs Single submitter autosomal recessive nonsyndromic hearing loss 30
  • p.Gln754Ter Single submitter autosomal recessive nonsyndromic hearing loss 30
  • p.Glu1448fs Single submitter autosomal recessive nonsyndromic hearing loss 30
  • p.Glu1537Ter Single submitter
  • p.Glu65fs Single submitter nonsyndromic genetic hearing loss
  • p.Ile156fs Single submitter MYO3A-related disorder
  • p.Leu1446fs Single submitter Rare genetic deafness
  • p.Phe808fs Single submitter nonsyndromic genetic hearing loss
  • p.Pro1467fs Single submitter MYO3A-related disorder
  • p.Pro235fs Single submitter MYO3A-related disorder
  • p.Pro882fs Single submitter
  • p.Ser702Ter Single submitter autosomal recessive nonsyndromic hearing loss 30
  • p.Tyr1002fs Single submitter autosomal recessive nonsyndromic hearing loss 30
  • c.2636-1G>T No assertion criteria autosomal recessive nonsyndromic hearing loss 30
  • p.Trp1031Ter No assertion criteria autosomal recessive nonsyndromic hearing loss 30

Conflicting classifications of pathogenicity 74

  • c.1170+15G>A Single submitter autosomal recessive nonsyndromic hearing loss 30
  • c.1359+1G>T Single submitter Rare genetic deafness
  • c.1360-8C>A Single submitter
  • c.1662-9T>A Single submitter autosomal recessive nonsyndromic hearing loss 30
  • c.1777-14G>T Single submitter autosomal recessive nonsyndromic hearing loss 30
  • c.2506-1G>A Single submitter MYO3A-related disorder
  • c.3000-11T>C Single submitter autosomal recessive nonsyndromic hearing loss 30
  • c.4730+11A>C Single submitter autosomal recessive nonsyndromic hearing loss 30
  • c.585+4A>T Single submitter
  • c.*270A>G Single submitter autosomal recessive nonsyndromic hearing loss 30
  • c.*493G>A Single submitter autosomal recessive nonsyndromic hearing loss 30
  • p.Ala1349Pro Single submitter Inborn genetic diseases
  • p.Ala1581= Single submitter autosomal recessive nonsyndromic hearing loss 30
  • p.Ala317Pro Single submitter Inborn genetic diseases ⚠
  • p.Ala520Val Single submitter autosomal recessive nonsyndromic hearing loss 30 ⚠
  • p.Ala904Thr Single submitter Inborn genetic diseases ⚠
  • p.Arg1013Cys Single submitter Inborn genetic diseases ⚠
  • p.Arg1243= Single submitter autosomal recessive nonsyndromic hearing loss 30
  • p.Arg1358Gln Single submitter Inborn genetic diseases ⚠
  • p.Arg1523Gly Single submitter Inborn genetic diseases ⚠
  • p.Arg1561Ter Single submitter autosomal recessive nonsyndromic hearing loss 30
  • p.Arg1610Gln Single submitter Inborn genetic diseases ⚠
  • p.Arg179Trp Single submitter Inborn genetic diseases ⚠
  • p.Arg182= Single submitter autosomal recessive nonsyndromic hearing loss 30
  • p.Arg991= Single submitter autosomal recessive nonsyndromic hearing loss 30
  • p.Asn1469= Single submitter autosomal recessive nonsyndromic hearing loss 30
  • p.Asn723= Single submitter autosomal recessive nonsyndromic hearing loss 30
  • p.Asn759Tyr Single submitter autosomal recessive nonsyndromic hearing loss 30 ⚠
  • p.Asn872Ser Single submitter Inborn genetic diseases ⚠
  • p.Asn902Thr Single submitter autosomal recessive nonsyndromic hearing loss 30 ⚠
  • p.Asp204Asn Single submitter autosomal recessive nonsyndromic hearing loss 30
  • p.Asp59= Single submitter autosomal recessive nonsyndromic hearing loss 30
  • p.Gln1365Pro Single submitter ⚠
  • p.Gln1454Ter Single submitter
  • p.Gln1530Leu Single submitter autosomal recessive nonsyndromic hearing loss 30 ⚠
  • p.Gln416= Single submitter
  • p.Gln425= Single submitter
  • p.Gln582= Single submitter autosomal recessive nonsyndromic hearing loss 30
  • p.Glu1010Lys Single submitter autosomal recessive nonsyndromic hearing loss 30 ⚠
  • p.Glu1180Lys Single submitter Inborn genetic diseases ⚠
  • p.Gly106fs Single submitter Rare genetic deafness
  • p.Gly414= Single submitter autosomal recessive nonsyndromic hearing loss 30
  • p.Gly488Glu Single submitter autosomal recessive nonsyndromic hearing loss 30 ⚠
  • p.His1391fs Single submitter
  • p.His142Gln Single submitter autosomal recessive nonsyndromic hearing loss 30 ⚠
  • p.His142Tyr Single submitter ⚠
  • p.Ile1294Val Single submitter Inborn genetic diseases ⚠
  • p.Ile1489Val Single submitter autosomal recessive nonsyndromic hearing loss 30 ⚠
  • p.Ile419Thr Single submitter ⚠
  • p.Ile901Asn Single submitter ⚠
  • p.Leu1502Ter Single submitter
  • p.Leu711= Single submitter autosomal recessive nonsyndromic hearing loss 30
  • p.Leu875= Single submitter autosomal recessive nonsyndromic hearing loss 30
  • p.Met1192fs Single submitter MYO3A-related disorder
  • p.Phe1136= Single submitter autosomal recessive nonsyndromic hearing loss 30
  • p.Pro1287Thr Single submitter autosomal recessive nonsyndromic hearing loss 30 ⚠
  • p.Pro548His Single submitter Inborn genetic diseases ⚠
  • p.Ser1085= Single submitter autosomal recessive nonsyndromic hearing loss 30
  • p.Ser1167fs Single submitter autosomal recessive nonsyndromic hearing loss 30
  • p.Ser1616Pro Single submitter ⚠
  • p.Ser928Ter Single submitter autosomal recessive nonsyndromic hearing loss 30
  • p.Thr1118Ala Single submitter autosomal recessive nonsyndromic hearing loss 30 ⚠
  • p.Thr1311Ser Single submitter autosomal recessive nonsyndromic hearing loss 30 ⚠
  • p.Thr1417Ile Single submitter autosomal recessive nonsyndromic hearing loss 30 ⚠
  • p.Thr302= Single submitter autosomal recessive nonsyndromic hearing loss 30
  • p.Thr302Met Single submitter Inborn genetic diseases ⚠
  • p.Thr657= Single submitter autosomal recessive nonsyndromic hearing loss 30
  • p.Tyr1244His Single submitter autosomal recessive nonsyndromic hearing loss 30 ⚠
  • p.Tyr1510= Single submitter autosomal recessive nonsyndromic hearing loss 30
  • p.Val1045Met Single submitter autosomal recessive nonsyndromic hearing loss 30 ⚠
  • p.Val1195= Single submitter
  • p.Val1195Ala Single submitter autosomal recessive nonsyndromic hearing loss 30 ⚠
  • p.Val1331= Single submitter autosomal recessive nonsyndromic hearing loss 30
  • p.Val1380= Single submitter autosomal recessive nonsyndromic hearing loss 30

Benign 114

Benign/Likely benign 18

  • c.4439-12C>T Multiple submitters
  • c.509-16T>C Multiple submitters
  • c.*246C>T Multiple submitters autosomal recessive nonsyndromic hearing loss 30
  • p.Ala1032Thr Multiple submitters autosomal recessive nonsyndromic hearing loss 30
  • p.Ala220= Multiple submitters autosomal recessive nonsyndromic hearing loss 30
  • p.Ala500= Multiple submitters
  • p.Ala833Ser Multiple submitters autosomal recessive nonsyndromic hearing loss 30 ⚠
  • p.Asn738= Multiple submitters
  • p.Asp208= Multiple submitters autosomal recessive nonsyndromic hearing loss 30
  • p.Glu1197Lys Multiple submitters autosomal recessive nonsyndromic hearing loss 30
  • p.Glu581= Multiple submitters autosomal recessive nonsyndromic hearing loss 30
  • p.Gly522= Multiple submitters
  • p.Leu343= Multiple submitters
  • p.Lys1445= Multiple submitters autosomal recessive nonsyndromic hearing loss 30
  • p.Lys1488Glu Multiple submitters autosomal recessive nonsyndromic hearing loss 30
  • p.Ser1008= Multiple submitters
  • p.Thr178Ile Multiple submitters autosomal recessive nonsyndromic hearing loss 30 ⚠
  • p.Val369Ile Multiple submitters

Likely benign 197

Uncertain significance 536

Showing the top 300 by review status; the full set is in the sitemap.