Sugi Variant

Sugi Variant/VMA21

VMA21 — 109 ClinVar variants

All ClinVar germline VMA21 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 36 flagged for review →

7 Pathogenic · 1 Likely pathogenic · 4 Conflicting · 9 Benign · 6 Benign/Likely benign · 33 Likely benign · 49 Uncertain significance

Full VMA21 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 36

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 3

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

Predictors lean, ClinVar uncertain 27

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

Predictors split 6

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

All VMA21 variants

Pathogenic 7

  • c.163+4A>G Multiple submitters Inborn genetic diseases
  • c.164-7T>G Single submitter X-linked myopathy with excessive autophagy
  • c.54-27A>C Single submitter X-linked myopathy with excessive autophagy
  • c.164-6T>G No assertion criteria X-linked myopathy with excessive autophagy
  • c.54-16_54-8del No assertion criteria X-linked myopathy with excessive autophagy
  • c.54-27A>T No assertion criteria X-linked myopathy with excessive autophagy
  • c.*13_*104del No assertion criteria X-linked myopathy with excessive autophagy

Likely pathogenic 1

  • p.Gly91Ala Single submitter X-linked myopathy with excessive autophagy

Conflicting classifications of pathogenicity 4

  • c.*6A>G Single submitter X-linked myopathy with excessive autophagy
  • p.Asp5Glu Single submitter Inborn genetic diseases ⚠
  • p.Pro4Leu Single submitter X-linked myopathy with excessive autophagy ⚠
  • p.Thr26Ala Single submitter Inborn genetic diseases ⚠

Benign 9

  • c.53+90T>A Multiple submitters
  • p.Gly7Arg Multiple submitters X-linked myopathy with excessive autophagy
  • c.163+14C>T Single submitter X-linked myopathy with excessive autophagy
  • c.164-11del Single submitter X-linked myopathy with excessive autophagy
  • c.164-19G>T Single submitter X-linked myopathy with excessive autophagy
  • c.*216_*217insAATTA Single submitter
  • p.Asn61Ser Single submitter X-linked myopathy with excessive autophagy
  • p.Thr34= Single submitter X-linked myopathy with excessive autophagy
  • p.Val84= Single submitter X-linked myopathy with excessive autophagy

Benign/Likely benign 6

  • c.163+16T>G Multiple submitters X-linked myopathy with excessive autophagy
  • c.164-11dup Multiple submitters X-linked myopathy with excessive autophagy
  • p.Ala75= Multiple submitters X-linked myopathy with excessive autophagy
  • p.Gly55= Multiple submitters X-linked myopathy with excessive autophagy
  • p.Thr48= Multiple submitters X-linked myopathy with excessive autophagy
  • p.Tyr85= Multiple submitters X-linked myopathy with excessive autophagy

Likely benign 33

  • p.Asn19= Multiple submitters X-linked myopathy with excessive autophagy
  • p.Glu17Asp Multiple submitters
  • c.164-11T>C Single submitter X-linked myopathy with excessive autophagy
  • c.164-19_164-18del Single submitter X-linked myopathy with excessive autophagy
  • c.164-19G>A Single submitter X-linked myopathy with excessive autophagy
  • c.164-20del Single submitter X-linked myopathy with excessive autophagy
  • c.53+12C>A Single submitter X-linked myopathy with excessive autophagy
  • c.53+18C>T Single submitter X-linked myopathy with excessive autophagy
  • c.54-17T>C Single submitter X-linked myopathy with excessive autophagy
  • c.-14G>C Single submitter
  • c.-1C>T Single submitter
  • p.Ala8= Single submitter X-linked myopathy with excessive autophagy
  • p.Ala87= Single submitter X-linked myopathy with excessive autophagy
  • p.Arg3= Single submitter X-linked myopathy with excessive autophagy
  • p.Asn61= Single submitter X-linked myopathy with excessive autophagy
  • p.Gln100= Single submitter X-linked myopathy with excessive autophagy
  • p.Glu97= Single submitter X-linked myopathy with excessive autophagy
  • p.Gly65Ala Single submitter X-linked myopathy with excessive autophagy
  • p.His77= Single submitter X-linked myopathy with excessive autophagy
  • p.Leu10= Single submitter
  • p.Leu30= Single submitter X-linked myopathy with excessive autophagy
  • p.Leu44= Single submitter X-linked myopathy with excessive autophagy
  • p.Leu9= Single submitter X-linked myopathy with excessive autophagy
  • p.Pro14= Single submitter X-linked myopathy with excessive autophagy
  • p.Pro4= Single submitter X-linked myopathy with excessive autophagy
  • p.Ser60= Single submitter X-linked myopathy with excessive autophagy
  • p.Ser64= Single submitter X-linked myopathy with excessive autophagy
  • p.Thr29= Single submitter X-linked myopathy with excessive autophagy
  • p.Val71= Single submitter X-linked myopathy with excessive autophagy
  • p.Val74= Single submitter X-linked myopathy with excessive autophagy
  • p.Val76= Single submitter X-linked myopathy with excessive autophagy
  • p.Val86= Single submitter X-linked myopathy with excessive autophagy
  • p.Glu58Ter No assertion criteria VMA21-related disorder

Uncertain significance 49

  • c.53+5C>T Multiple submitters X-linked myopathy with excessive autophagy
  • p.Ala56Thr Multiple submitters Inborn genetic diseases ⚠
  • p.Ala68Ser Multiple submitters X-linked myopathy with excessive autophagy ⚠
  • p.Ala75Thr Multiple submitters Inborn genetic diseases ⚠
  • p.Ala8Thr Multiple submitters X-linked myopathy with excessive autophagy ⚠
  • p.Ile42Val Multiple submitters X-linked myopathy with excessive autophagy ⚠
  • p.Tyr65Cys Multiple submitters Inborn genetic diseases ⚠
  • p.Val74Phe Multiple submitters X-linked myopathy with excessive autophagy ⚠
  • p.Val76Ile Multiple submitters X-linked myopathy with excessive autophagy
  • c.164-3T>A Single submitter X-linked myopathy with excessive autophagy
  • c.164-7T>A Single submitter X-linked myopathy with excessive autophagy
  • c.53+4G>T Single submitter X-linked myopathy with excessive autophagy
  • c.54-27A>G Single submitter X-linked myopathy with excessive autophagy
  • c.-10C>T Single submitter
  • c.-290G>A Single submitter
  • c.-382C>T Single submitter
  • c.-486C>T Single submitter
  • c.-8G>A Single submitter
  • p.Ala24Glu Single submitter X-linked myopathy with excessive autophagy ⚠
  • p.Ala24Pro Single submitter X-linked myopathy with excessive autophagy ⚠
  • p.Ala24Thr Single submitter Inborn genetic diseases ⚠
  • p.Ala8Val Single submitter X-linked myopathy with excessive autophagy ⚠
  • p.Arg18Gly Single submitter ⚠
  • p.Arg3Leu Single submitter Inborn genetic diseases ⚠
  • p.Arg96His Single submitter X-linked myopathy with excessive autophagy ⚠
  • p.Asn10Ser Single submitter X-linked myopathy with excessive autophagy ⚠
  • p.Asn19Lys Single submitter X-linked myopathy with excessive autophagy ⚠
  • p.Asp63Tyr Single submitter X-linked myopathy with excessive autophagy ⚠
  • p.Cys20Tyr Single submitter X-linked myopathy with excessive autophagy
  • p.Glu58Gln Single submitter
  • p.Gly43Trp Single submitter X-linked myopathy with excessive autophagy ⚠
  • p.Gly55Asp Single submitter X-linked myopathy with excessive autophagy
  • p.Gly55Val Single submitter X-linked myopathy with excessive autophagy ⚠
  • p.Gly58Arg Single submitter X-linked myopathy with excessive autophagy ⚠
  • p.His77Tyr Single submitter X-linked myopathy with excessive autophagy ⚠
  • p.Ile38Val Single submitter X-linked myopathy with excessive autophagy ⚠
  • p.Ile70Phe Single submitter Inborn genetic diseases
  • p.Ile70Val Single submitter X-linked myopathy with excessive autophagy ⚠
  • p.Leu82Arg Single submitter X-linked myopathy with excessive autophagy ⚠
  • p.Met59Val Single submitter X-linked myopathy with excessive autophagy ⚠
  • p.Pro14Leu Single submitter X-linked myopathy with excessive autophagy ⚠
  • p.Pro14Ser Single submitter ⚠
  • p.Pro4Arg Single submitter X-linked myopathy with excessive autophagy ⚠
  • p.Pro4Gln Single submitter X-linked myopathy with excessive autophagy ⚠
  • p.Thr29Met Single submitter X-linked myopathy with excessive autophagy
  • p.Tyr65Phe Single submitter Inborn genetic diseases ⚠
  • p.Val79Gly Single submitter X-linked myopathy with excessive autophagy ⚠
  • p.Val79Leu Single submitter X-linked myopathy with excessive autophagy ⚠
  • p.Ile52Val No assertion criteria VMA21-related disorder ⚠