ClinVar Miner

Submissions for variant NC_000005.9:g.(?_125889959)_(125896836_?)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 RCV004578984 SCV005062975 pathogenic Pyridoxine-dependent epilepsy 2024-01-29 criteria provided, single submitter clinical testing This variant is a gross deletion of the genomic region encompassing exon(s) 10-13 of the ALDH7A1 gene. This deletion is out-of-frame, and is expected to create a premature termination codon and result in an absent or disrupted protein product. Loss-of-function variants in ALDH7A1 are known to be pathogenic (PMID: 16491085, 20554659). This variant has not been reported in the literature in individuals affected with ALDH7A1-related conditions. For these reasons, this variant has been classified as Pathogenic.

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