Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000468096 | SCV000551315 | likely pathogenic | Pyridoxine-dependent epilepsy | 2016-07-04 | criteria provided, single submitter | clinical testing | This sequence change affects an acceptor splice site in intron 2 of the ALDH7A1 gene. It is expected to disrupt mRNA splicing and likely results in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency) and has not been reported in the literature in individuals with a ALDH7A1-related disease. In summary, donor and acceptor splice site variants are typically truncating (PMID: 16199547), and truncating variants in ALDH7A1 are known to be pathogenic (PMID: 16491085). However, without additional functional and/or genetic data, this variant has been classified as Likely Pathogenic. |
Ambry Genetics | RCV001266223 | SCV001444395 | likely pathogenic | Inborn genetic diseases | 2018-02-28 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV000468096 | SCV004050276 | likely pathogenic | Pyridoxine-dependent epilepsy | 2023-04-11 | criteria provided, single submitter | clinical testing |