Sugi Variant

Sugi Variant/POPDC1

POPDC1 — 93 ClinVar variants

All ClinVar germline POPDC1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 46 flagged for review →

1 Pathogenic/Likely pathogenic · 5 Likely pathogenic · 1 Conflicting · 18 Benign · 4 Benign/Likely benign · 16 Likely benign · 48 Uncertain significance

Full POPDC1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 46

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 1

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

Predictors lean, ClinVar uncertain 39

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 POPDC1 variants

Pathogenic/Likely pathogenic 1

  • p.Arg88Ter Multiple submitters limb-girdle muscular dystrophy

Likely pathogenic 5

  • p.Ser201Phe Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2X
  • c.351+1del Single submitter autosomal recessive limb-girdle muscular dystrophy type 2X
  • p.Arg143Ter Single submitter
  • p.Gln153Ter Single submitter autosomal recessive limb-girdle muscular dystrophy type 2X
  • p.Ser174fs Single submitter autosomal recessive limb-girdle muscular dystrophy type 2X

Conflicting classifications of pathogenicity 1

  • p.Asn192Asp Single submitter autosomal recessive limb-girdle muscular dystrophy type 2X ⚠

Benign 18

Benign/Likely benign 4

Likely benign 16

Uncertain significance 48

  • p.Arg129Gln Multiple submitters Inborn genetic diseases ⚠
  • p.Arg172His Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2X ⚠
  • p.Arg311Gln Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2X ⚠
  • p.Arg88Gln Multiple submitters Inborn genetic diseases ⚠
  • p.Asp304Asn Multiple submitters Inborn genetic diseases ⚠
  • p.His279Arg Multiple submitters Inborn genetic diseases ⚠
  • p.Leu62Val Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2X ⚠
  • p.Lys157Asn Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2X ⚠
  • p.Ser184Phe Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2X
  • c.226+3A>G Single submitter autosomal recessive limb-girdle muscular dystrophy type 2X
  • p.Ala48Thr Single submitter Inborn genetic diseases ⚠
  • p.Arg143Ile Single submitter Inborn genetic diseases ⚠
  • p.Arg311Trp Single submitter autosomal recessive limb-girdle muscular dystrophy type 2X ⚠
  • p.Asp140His Single submitter Inborn genetic diseases ⚠
  • p.Gln358Arg Single submitter autosomal recessive limb-girdle muscular dystrophy type 2X ⚠
  • p.Glu22Gln Single submitter autosomal recessive limb-girdle muscular dystrophy type 2X ⚠
  • p.Glu35Gly Single submitter Inborn genetic diseases ⚠
  • p.His191Arg Single submitter autosomal recessive limb-girdle muscular dystrophy type 2X ⚠
  • p.His325Arg Single submitter Inborn genetic diseases ⚠
  • p.Ile105Asn Single submitter autosomal recessive limb-girdle muscular dystrophy type 2X ⚠
  • p.Ile253Thr Single submitter autosomal recessive limb-girdle muscular dystrophy type 2X ⚠
  • p.Ile257Met Single submitter autosomal recessive limb-girdle muscular dystrophy type 2X ⚠
  • p.Ile25Thr Single submitter autosomal recessive limb-girdle muscular dystrophy type 2X ⚠
  • p.Ile67Val Single submitter autosomal recessive limb-girdle muscular dystrophy type 2X ⚠
  • p.Ile93Val Single submitter Inborn genetic diseases ⚠
  • p.Leu190Pro Single submitter autosomal recessive limb-girdle muscular dystrophy type 2X ⚠
  • p.Leu269Phe Single submitter autosomal recessive limb-girdle muscular dystrophy type 2X ⚠
  • p.Leu281Val Single submitter autosomal recessive limb-girdle muscular dystrophy type 2X ⚠
  • p.Lys156Arg Single submitter autosomal recessive limb-girdle muscular dystrophy type 2X ⚠
  • p.Lys355Glu Single submitter Inborn genetic diseases ⚠
  • p.Met292Ile Single submitter autosomal recessive limb-girdle muscular dystrophy type 2X ⚠
  • p.Met332Leu Single submitter Inborn genetic diseases ⚠
  • p.Phe45Ser Single submitter ⚠
  • p.Pro117= Single submitter
  • p.Pro334Gln Single submitter Inborn genetic diseases ⚠
  • p.Pro348Leu Single submitter autosomal recessive limb-girdle muscular dystrophy type 2X ⚠
  • p.Pro8Ser Single submitter Inborn genetic diseases ⚠
  • p.Ser174Thr Single submitter Inborn genetic diseases ⚠
  • p.Ser282Asn Single submitter BVES-related disorder ⚠
  • p.Ser299Phe Single submitter ⚠
  • p.Ser314fs Single submitter autosomal recessive limb-girdle muscular dystrophy type 2X
  • p.Thr313Ala Single submitter autosomal recessive limb-girdle muscular dystrophy type 2X ⚠
  • p.Thr313Ile Single submitter autosomal recessive limb-girdle muscular dystrophy type 2X ⚠
  • p.Tyr80Cys Single submitter ⚠
  • p.Tyr87Cys Single submitter Inborn genetic diseases ⚠
  • p.Val27Gly Single submitter Inborn genetic diseases ⚠
  • p.Val345Ile Single submitter autosomal recessive limb-girdle muscular dystrophy type 2X ⚠
  • p.Val82Ile Single submitter autosomal recessive limb-girdle muscular dystrophy type 2X ⚠