Succinate-semialdehyde dehydrogenase deficiency: genes and variants

Genes linked to Succinate-semialdehyde dehydrogenase deficiency

• ALDH5A1: Succinate-semialdehyde dehydrogenase, mitochondrial

  55 disease-causing and 252 uncertain variants in ALDH5A1 are linked to Succinate-semialdehyde dehydrogenase deficiency.

Known disease-causing variants in Succinate-semialdehyde dehydrogenase deficiency

Uncertain variants in Succinate-semialdehyde dehydrogenase deficiency that look disease-causing

Which prediction tools work for Succinate-semialdehyde dehydrogenase deficiency

How often each tool ranks a disease-causing variant above a harmless one (AUROC × 100).

• REVEL: 95 out of 100 (learned from overlapping clinical labels, so this is optimistic)
• PolyPhen-2: 95 out of 100 (learned from overlapping clinical labels, so this is optimistic)
• CADD: 91 out of 100
• CATVariant: 91 out of 100 (learned from overlapping clinical labels, so this is optimistic)
• SIFT: 82 out of 100
• phyloP: 81 out of 100

Diseases related to Succinate-semialdehyde dehydrogenase deficiency

• Epilepsy, also linked to ALDH5A1
• Likely inborn error of metabolism, also linked to ALDH5A1

Frequently asked questions

Which genes are linked to Succinate-semialdehyde dehydrogenase deficiency?

In CATVariant, Succinate-semialdehyde dehydrogenase deficiency is linked to 1 analyzed protein: ALDH5A1 (Succinate-semialdehyde dehydrogenase, mitochondrial).

How many genetic variants are linked to Succinate-semialdehyde dehydrogenase deficiency?

318 variants: 55 are classified as disease-causing (pathogenic or likely pathogenic) in ClinVar and 252 are of uncertain significance or have conflicting reports.

Which uncertain variants in Succinate-semialdehyde dehydrogenase deficiency look disease-causing?

6 uncertain variants reach the likely-pathogenic range of the ACMG/AMP points scale on computable evidence, for example ALDH5A1 E231G, ALDH5A1 T423A, ALDH5A1 G520S, ALDH5A1 R213Q and ALDH5A1 C531R. These are leads for expert review, not diagnoses.

Which variant effect predictor works best for Succinate-semialdehyde dehydrogenase deficiency?

Among tools not trained on clinical labels, CADD separates this disease's known disease-causing variants from harmless ones best (AUROC 0.91, based on 34 disease-causing and 11 harmless variants).

About this data

Variant–disease links come from ClinVar, Open Targets and UniProt, pooled from the latest public CATVariant analysis of each human protein. Evidence scores use the ACMG/AMP Bayesian points scale with computable criteria only (position among known disease variants, rarity in gnomAD, calibrated predictors, deep mutational scanning); there is no family or patient data, so they prioritise variants for expert review and never classify them.

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