Sugi Variant

Sugi Variant/MARVELD2

MARVELD2 — 264 ClinVar variants

All ClinVar germline MARVELD2 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 120 flagged for review →

19 Pathogenic · 5 Pathogenic/Likely pathogenic · 17 Likely pathogenic · 26 Conflicting · 9 Benign · 1 Benign/Likely benign · 51 Likely benign · 136 Uncertain significance

Full MARVELD2 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 120

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 93

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

Predictors split 15

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

All MARVELD2 variants

Pathogenic 19

  • c.1331+1G>A Multiple submitters autosomal recessive nonsyndromic hearing loss 49
  • c.1332-1del Single submitter autosomal recessive nonsyndromic hearing loss 49
  • p.Gln380Ter Single submitter autosomal recessive nonsyndromic hearing loss 49
  • p.Glu38fs Single submitter
  • p.His374fs Single submitter
  • p.His432fs Single submitter autosomal recessive nonsyndromic hearing loss 49
  • p.Leu203fs Single submitter autosomal recessive nonsyndromic hearing loss 49
  • p.Leu224fs Single submitter autosomal recessive nonsyndromic hearing loss 49
  • p.Lys87Ter Single submitter
  • p.Ser228Ter Single submitter autosomal recessive nonsyndromic hearing loss 49
  • p.Ser387Ter Single submitter
  • p.Ser467fs Single submitter autosomal recessive nonsyndromic hearing loss 49
  • p.Thr267fs Single submitter
  • p.Trp289Ter Single submitter
  • p.Tyr222Ter Single submitter autosomal recessive nonsyndromic hearing loss 49
  • p.Tyr458Ter Single submitter autosomal recessive nonsyndromic hearing loss 49
  • p.Val354fs Single submitter autosomal recessive nonsyndromic hearing loss 49
  • p.Val489_Met490insTer Single submitter autosomal recessive nonsyndromic hearing loss 49
  • c.1331+4_1331+7del No assertion criteria autosomal recessive nonsyndromic hearing loss 49

Pathogenic/Likely pathogenic 5

  • c.1183-1G>A Multiple submitters autosomal recessive nonsyndromic hearing loss 49
  • c.1331+2T>C Multiple submitters Monogenic hearing loss
  • p.Arg317Ter Multiple submitters MARVELD2-related disorders
  • p.Arg500Ter Multiple submitters MARVELD2-related disorders
  • p.Val409fs No assertion criteria hearing loss, autosomal recessive

Likely pathogenic 17

  • p.Arg164Ter Multiple submitters autosomal recessive nonsyndromic hearing loss 49
  • p.Arg455Ter Multiple submitters MARVELD2-related disorders
  • p.Phe294fs Multiple submitters hearing loss disorder
  • p.Ser63Ter Multiple submitters autosomal recessive nonsyndromic hearing loss 49
  • p.Arg375fs Single submitter autosomal recessive nonsyndromic hearing loss 49
  • p.Arg505fs Single submitter autosomal recessive nonsyndromic hearing loss 49
  • p.Asp111fs Single submitter MARVELD2-related disorders
  • p.Asp402fs Single submitter
  • p.Glu527fs Single submitter autosomal recessive nonsyndromic hearing loss 49
  • p.Gly240fs Single submitter autosomal recessive nonsyndromic hearing loss 49
  • p.Ile270del Single submitter autosomal recessive nonsyndromic hearing loss 49
  • p.Thr171fs Single submitter autosomal recessive nonsyndromic hearing loss 49
  • p.Trp99Ter Single submitter
  • p.Val169fs Single submitter MARVELD2-related disorders
  • p.Val199fs Single submitter
  • p.Arg375Ter No assertion criteria autosomal recessive nonsyndromic hearing loss 49
  • p.Arg403fs No assertion criteria autosomal recessive nonsyndromic hearing loss 49

Conflicting classifications of pathogenicity 26

  • c.1147-2A>G Single submitter autosomal recessive nonsyndromic hearing loss 49
  • c.1555-13A>G Single submitter autosomal recessive nonsyndromic hearing loss 49
  • c.*2G>A Single submitter
  • p.Ala122Thr Single submitter autosomal recessive nonsyndromic hearing loss 49 ⚠
  • p.Ala72Gly Single submitter ⚠
  • p.Arg10= Single submitter autosomal recessive nonsyndromic hearing loss 49
  • p.Arg147Gln Single submitter Inborn genetic diseases ⚠
  • p.Arg170Ter Single submitter
  • p.Arg481= Single submitter autosomal recessive nonsyndromic hearing loss 49
  • p.Arg91Ser Single submitter Inborn genetic diseases ⚠
  • p.Asp151= Single submitter autosomal recessive nonsyndromic hearing loss 49
  • p.Gln167Arg Single submitter autosomal recessive nonsyndromic hearing loss 49 ⚠
  • p.Gly261Glu Single submitter autosomal recessive nonsyndromic hearing loss 49 ⚠
  • p.His165Arg Single submitter Inborn genetic diseases ⚠
  • p.Ile270Leu Single submitter autosomal recessive nonsyndromic hearing loss 49 ⚠
  • p.Ile71Val Single submitter Inborn genetic diseases ⚠
  • p.Leu130His Single submitter ⚠
  • p.Leu300= Single submitter
  • p.Leu300Met Single submitter autosomal recessive nonsyndromic hearing loss 49 ⚠
  • p.Pro102= Single submitter autosomal recessive nonsyndromic hearing loss 49
  • p.Pro436= Single submitter autosomal recessive nonsyndromic hearing loss 49
  • p.Pro440= Single submitter autosomal recessive nonsyndromic hearing loss 49
  • p.Pro59Leu Single submitter autosomal recessive nonsyndromic hearing loss 49 ⚠
  • p.Thr416= Single submitter autosomal recessive nonsyndromic hearing loss 49
  • p.Tyr278= Single submitter autosomal recessive nonsyndromic hearing loss 49
  • p.Tyr469= Single submitter autosomal recessive nonsyndromic hearing loss 49

Benign 9

Benign/Likely benign 1

Likely benign 51

Uncertain significance 136