ClinVar Miner

Submissions for variant NM_001182.5(ALDH7A1):c.1093+1G>A

dbSNP: rs794727058
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000174294 SCV000225573 pathogenic not provided 2015-02-23 criteria provided, single submitter clinical testing
Invitae RCV003517138 SCV004292832 pathogenic Pyridoxine-dependent epilepsy 2024-01-16 criteria provided, single submitter clinical testing This sequence change affects a donor splice site in intron 12 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 not present in population databases (gnomAD no frequency). Disruption of this splice site has been observed in individual(s) with pyridoxine-dependent epilepsy (PMID: 20814824, 34495967). ClinVar contains an entry for this variant (Variation ID: 194033). 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.

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.