ClinVar Miner

Submissions for variant NM_001182.5(ALDH7A1):c.1008+1G>A

gnomAD frequency: 0.00001  dbSNP: rs1482167835
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001061586 SCV001226334 pathogenic Pyridoxine-dependent epilepsy 2023-12-10 criteria provided, single submitter clinical testing This sequence change affects a donor splice site in intron 11 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 (no rsID available, gnomAD 0.006%). Disruption of this splice site has been observed in individuals with piridoxine-dependent epilepsy (PDE) (PMID: 24664145, 28962114). ClinVar contains an entry for this variant (Variation ID: 856181). 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.

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