ClinVar Miner

Submissions for variant NM_001182.5(ALDH7A1):c.192+3A>T

dbSNP: rs773814169
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Total submissions: 1
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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.

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