Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000019612 | SCV000948427 | pathogenic | Pyridoxine-dependent epilepsy | 2024-01-10 | criteria provided, single submitter | clinical testing | This sequence change affects an acceptor splice site in intron 5 of the ALDH7A1 gene. It is expected to disrupt RNA splicing. Variants that disrupt the donor or acceptor splice site typically lead to a loss of protein function (PMID: 16199547), and loss-of-function variants in ALDH7A1 are known to be pathogenic (PMID: 16491085, 20554659). This variant is present in population databases (rs779494572, gnomAD 0.002%). Disruption of this splice site has been observed in individual(s) with pyridoxine-dependent epilepsy (PMID: 20554659). It has also been observed to segregate with disease in related individuals. ClinVar contains an entry for this variant (Variation ID: 17996). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. For these reasons, this variant has been classified as Pathogenic. |
Institute of Human Genetics, |
RCV002254677 | SCV002526126 | pathogenic | Neonatal epileptic spasm | 2022-06-08 | criteria provided, single submitter | clinical testing | ACMG categories: PVS1,PS4,PM2,PP5 |
Genome- |
RCV000019612 | SCV004049771 | pathogenic | Pyridoxine-dependent epilepsy | 2023-04-11 | criteria provided, single submitter | clinical testing | |
OMIM | RCV000019612 | SCV000039910 | pathogenic | Pyridoxine-dependent epilepsy | 2006-03-01 | no assertion criteria provided | literature only |