Sugi Variant

Sugi Variant/ALDH6A1

ALDH6A1 — 230 ClinVar variants

All ClinVar germline ALDH6A1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 74 flagged for review →

6 Pathogenic · 2 Likely pathogenic · 7 Conflicting · 35 Benign · 6 Benign/Likely benign · 65 Likely benign · 109 Uncertain significance

Full ALDH6A1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 74

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 vs ClinVar 2

ClinVar calls these pathogenic, but the computational predictors lean tolerated — the highest-value review flag.

Predictors agree, ClinVar conflicts 2

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

Predictors lean, ClinVar uncertain 45

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

Predictors split 25

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

All ALDH6A1 variants

Pathogenic 6

  • p.Arg535Cys No assertion criteria methylmalonate semialdehyde dehydrogenase deficiency ⚠
  • p.Gly446Arg No assertion criteria methylmalonate semialdehyde dehydrogenase deficiency
  • p.Pro421Ser No assertion criteria methylmalonate semialdehyde dehydrogenase deficiency
  • p.Pro62Ser No assertion criteria methylmalonate semialdehyde dehydrogenase deficiency
  • p.Ser262Tyr No assertion criteria methylmalonate semialdehyde dehydrogenase deficiency
  • p.Tyr172His No assertion criteria methylmalonate semialdehyde dehydrogenase deficiency ⚠

Likely pathogenic 2

  • p.Gln143Ter Single submitter methylmalonate semialdehyde dehydrogenase deficiency
  • p.Gln436fs Single submitter

Conflicting classifications of pathogenicity 7

  • c.112-15G>T Single submitter methylmalonate semialdehyde dehydrogenase deficiency
  • p.Arg386Ter Single submitter methylmalonate semialdehyde dehydrogenase deficiency
  • p.Asn65Ser Single submitter methylmalonate semialdehyde dehydrogenase deficiency ⚠
  • p.Asp253= Single submitter methylmalonate semialdehyde dehydrogenase deficiency
  • p.Gly307= Single submitter methylmalonate semialdehyde dehydrogenase deficiency
  • p.Ser51Pro Single submitter methylmalonate semialdehyde dehydrogenase deficiency ⚠
  • p.Val49Ile Single submitter methylmalonate semialdehyde dehydrogenase deficiency ⚠

Benign 35

  • c.112-11G>T Multiple submitters
  • c.112-31GTTT[5] Multiple submitters
  • c.349-18T>C Multiple submitters
  • c.730+13A>C Multiple submitters methylmalonate semialdehyde dehydrogenase deficiency
  • c.*1015C>T Multiple submitters methylmalonate semialdehyde dehydrogenase deficiency
  • c.*1016G>A Multiple submitters methylmalonate semialdehyde dehydrogenase deficiency
  • c.*1032C>T Multiple submitters methylmalonate semialdehyde dehydrogenase deficiency
  • c.*1148C>T Multiple submitters methylmalonate semialdehyde dehydrogenase deficiency
  • c.*1157G>C Multiple submitters methylmalonate semialdehyde dehydrogenase deficiency
  • c.*1623C>T Multiple submitters methylmalonate semialdehyde dehydrogenase deficiency
  • c.*1934T>C Multiple submitters methylmalonate semialdehyde dehydrogenase deficiency
  • c.*2361G>A Multiple submitters methylmalonate semialdehyde dehydrogenase deficiency
  • c.*2680A>G Multiple submitters methylmalonate semialdehyde dehydrogenase deficiency
  • c.*2816T>C Multiple submitters methylmalonate semialdehyde dehydrogenase deficiency
  • c.*2994A>C Multiple submitters methylmalonate semialdehyde dehydrogenase deficiency
  • c.*494A>T Multiple submitters methylmalonate semialdehyde dehydrogenase deficiency
  • c.*642C>T Multiple submitters methylmalonate semialdehyde dehydrogenase deficiency
  • p.Arg535His Multiple submitters methylmalonate semialdehyde dehydrogenase deficiency
  • p.Thr485= Multiple submitters methylmalonate semialdehyde dehydrogenase deficiency
  • c.112-11_112-10del Single submitter
  • c.112-31GTTT[7] Single submitter
  • c.112-5_112-4del Single submitter
  • c.186+7G>A Single submitter
  • c.349-29T>C Single submitter
  • c.853-3del Single submitter
  • c.*1006C>T Single submitter methylmalonate semialdehyde dehydrogenase deficiency
  • c.*1181G>A Single submitter methylmalonate semialdehyde dehydrogenase deficiency
  • c.*142C>T Single submitter
  • c.*1514A>G Single submitter methylmalonate semialdehyde dehydrogenase deficiency
  • c.*155T>C Single submitter
  • c.*2157C>T Single submitter methylmalonate semialdehyde dehydrogenase deficiency
  • c.*2298G>A Single submitter methylmalonate semialdehyde dehydrogenase deficiency
  • c.*403T>C Single submitter
  • c.*403T>G Single submitter methylmalonate semialdehyde dehydrogenase deficiency
  • c.*980A>G Single submitter methylmalonate semialdehyde dehydrogenase deficiency

Benign/Likely benign 6

  • c.349-13G>A Multiple submitters methylmalonate semialdehyde dehydrogenase deficiency
  • c.731-12T>C Multiple submitters methylmalonate semialdehyde dehydrogenase deficiency
  • c.853-11dup Multiple submitters methylmalonate semialdehyde dehydrogenase deficiency
  • c.*2517T>C Multiple submitters methylmalonate semialdehyde dehydrogenase deficiency
  • p.Glu212= Multiple submitters
  • p.Val138= Multiple submitters methylmalonate semialdehyde dehydrogenase deficiency

Likely benign 65

Uncertain significance 109