ClinVar Miner

Submissions for variant NM_001182.5(ALDH7A1):c.650+5G>C

gnomAD frequency: 0.00001  dbSNP: rs201040092
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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 RCV001873917 SCV002108765 uncertain significance Pyridoxine-dependent epilepsy 2021-08-05 criteria provided, single submitter clinical testing This sequence change falls in intron 6 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 of the intron. This variant is present in population databases (rs201040092, ExAC 0.001%). This variant has not been reported in the literature in individuals affected with ALDH7A1-related conditions. 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. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

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