ClinVar Miner

Submissions for variant NM_001080.3(ALDH5A1):c.1323dup (p.Pro442fs)

dbSNP: rs1561879345
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000730699 SCV000858458 pathogenic not provided 2017-11-30 criteria provided, single submitter clinical testing
GeneDx RCV000730699 SCV001167851 likely pathogenic not provided 2022-11-25 criteria provided, single submitter clinical testing Frameshift variant predicted to result in protein truncation, as the last 94 amino acids are replaced with 18 different amino acids, and other loss-of-function variants have been reported downstream in the Human Gene Mutation Database (HGMD); Not observed at significant frequency in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 14635103, 27535533, 24077912)
Invitae RCV001855644 SCV002158490 pathogenic Succinate-semialdehyde dehydrogenase deficiency 2021-02-06 criteria provided, single submitter clinical testing This variant is not present in population databases (ExAC no frequency). For these reasons, this variant has been classified as Pathogenic. This variant disrupts the C-terminus of the ALDH5A1 protein. Other variant(s) that disrupt this region (p.Arg514*) have been determined to be pathogenic (PMID: 14635103). This suggests that variants that disrupt this region of the protein are likely to be causative of disease. This variant has been observed in individual(s) with SSADH deficiency (PMID: 14635103). The variant is also known as p.P442fsX18 in the literature. ClinVar contains an entry for this variant (Variation ID: 595206). This sequence change creates a premature translational stop signal (p.Pro442Alafs*19) in the ALDH5A1 gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 94 amino acid(s) of the ALDH5A1 protein.
Elsea Laboratory, Baylor College of Medicine RCV001855644 SCV002820031 pathogenic Succinate-semialdehyde dehydrogenase deficiency 2021-03-08 criteria provided, single submitter curation

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