Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000730699 | SCV000858458 | pathogenic | not provided | 2017-11-30 | criteria provided, single submitter | clinical testing | |
Gene |
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, |
RCV001855644 | SCV002820031 | pathogenic | Succinate-semialdehyde dehydrogenase deficiency | 2021-03-08 | criteria provided, single submitter | curation |