Sugi Variant

Sugi Variant/MLYCD

MLYCD — 559 ClinVar variants

All ClinVar germline MLYCD variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 195 flagged for review →

40 Pathogenic · 3 Pathogenic/Likely pathogenic · 9 Likely pathogenic · 15 Conflicting · 30 Benign · 11 Benign/Likely benign · 235 Likely benign · 216 Uncertain significance

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

⚑ Evidence disagreements 195

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 8

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

Predictors lean, ClinVar uncertain 136

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

Predictors split 51

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

All MLYCD variants

Pathogenic 40

Pathogenic/Likely pathogenic 3

Likely pathogenic 9

Conflicting classifications of pathogenicity 15

Benign 30

Benign/Likely benign 11

  • c.-7G>A Multiple submitters malonic aciduria
  • p.Ala428= Multiple submitters malonic aciduria
  • p.Ala69Val Multiple submitters malonic aciduria
  • p.Arg11Gly Multiple submitters malonic aciduria
  • p.Gln488= Multiple submitters malonic aciduria
  • p.Gly259Ala Multiple submitters malonic aciduria
  • p.Gly89= Multiple submitters malonic aciduria
  • p.Leu78= Multiple submitters malonic aciduria
  • p.Thr284Ala Multiple submitters malonic aciduria
  • p.Tyr131= Multiple submitters malonic aciduria
  • p.Val181Met Multiple submitters malonic aciduria

Likely benign 235

Uncertain significance 216