ClinVar Miner

Submissions for variant NM_001080.3(ALDH5A1):c.1478A>G (p.Asn493Ser)

gnomAD frequency: 0.00001  dbSNP: rs776978579
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000634939 SCV000756311 uncertain significance Succinate-semialdehyde dehydrogenase deficiency 2017-10-12 criteria provided, single submitter clinical testing This sequence change replaces asparagine with serine at codon 493 of the ALDH5A1 protein (p.Asn493Ser). The asparagine residue is highly conserved and there is a small physicochemical difference between asparagine and serine. This variant is present in population databases (rs776978579, ExAC 0.001%). This variant has not been reported in the literature in individuals with ALDH5A1-related disease. Algorithms developed to predict the effect of missense changes on protein structure and function do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Elsea Laboratory, Baylor College of Medicine RCV000634939 SCV002820040 likely pathogenic Succinate-semialdehyde dehydrogenase deficiency 2021-03-08 criteria provided, single submitter curation

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