Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000534592 | SCV000640316 | pathogenic | Pyridoxine-dependent epilepsy | 2023-08-04 | criteria provided, single submitter | clinical testing | This sequence change falls in intron 1 of the ALDH7A1 gene. It does not directly change the encoded amino acid sequence of the ALDH7A1 protein. It affects a nucleotide within the consensus splice site. This variant is present in population databases (rs773814169, gnomAD 0.006%). This variant has been observed in individual(s) with pyridoxine-dependent seizures (PMID: 17433748; Invitae). This variant is also known as IVS1+3A>T. ClinVar contains an entry for this variant (Variation ID: 465326). Variants that disrupt the consensus splice site are a relatively common cause of aberrant splicing (PMID: 17576681, 9536098). 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. |