ClinVar Miner

Submissions for variant NM_001080.3(ALDH5A1):c.1592G>A (p.Cys531Tyr)

gnomAD frequency: 0.00001  dbSNP: rs953870735
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001910470 SCV002191267 likely pathogenic Succinate-semialdehyde dehydrogenase deficiency 2022-07-18 criteria provided, single submitter clinical testing Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is expected to disrupt ALDH5A1 protein function. This sequence change replaces cysteine, which is neutral and slightly polar, with tyrosine, which is neutral and polar, at codon 531 of the ALDH5A1 protein (p.Cys531Tyr). This variant is present in population databases (no rsID available, gnomAD 0.002%). This missense change has been observed in individual(s) with succinic semialdehyde dehydrogenase deficiency (PMID: 32395407, 32402538). ClinVar contains an entry for this variant (Variation ID: 1419591). Experimental studies have shown that this missense change affects ALDH5A1 function (PMID: 32395407, 32402538). In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic.
Elsea Laboratory, Baylor College of Medicine RCV001910470 SCV002820049 pathogenic Succinate-semialdehyde dehydrogenase deficiency 2021-03-08 criteria provided, single submitter curation

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