ClinVar Miner

Submissions for variant NC_000005.9:g.(?_125929344)_(125930707_?)del

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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 RCV001930337 SCV002183348 pathogenic Pyridoxine-dependent epilepsy 2021-03-03 criteria provided, single submitter clinical testing This variant has been observed in individual(s) with clinical features of pyridoxine-dependent epilepsy (Invitae). This variant results in the deletion of part of exon 1 (c.184_193-248delinsTGGGGAGCCTG) 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). For these reasons, this variant has been classified as Pathogenic.

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