ClinVar Miner

Submissions for variant NM_001080.3(ALDH5A1):c.1529C>T (p.Ser510Phe)

dbSNP: rs578023593
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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 RCV000634940 SCV000756312 uncertain significance Succinate-semialdehyde dehydrogenase deficiency 2017-10-12 criteria provided, single submitter clinical testing This sequence change replaces serine with phenylalanine at codon 510 of the ALDH5A1 protein (p.Ser510Phe). The serine residue is highly conserved and there is a large physicochemical difference between serine and phenylalanine. This variant is present in population databases (rs578023593, ExAC 0.01%). This variant has been reported in several individuals affected with succinic semialdehyde dehydrogenase deficiency (PMID: 26220405). Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. 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 RCV000634940 SCV002820047 pathogenic Succinate-semialdehyde dehydrogenase deficiency 2021-03-08 criteria provided, single submitter curation

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