ClinVar Miner

Submissions for variant NC_000005.9:g.(?_125930679)_(125930890_?)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 RCV004578980 SCV005062971 pathogenic Pyridoxine-dependent epilepsy 2023-12-13 criteria provided, single submitter clinical testing This variant is a gross deletion of the genomic region encompassing exon(s) 1 of the ALDH7A1 gene, which includes the initiator codon. This deletion extends beyond the assayed region for this gene and therefore may encompass additional genes. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in ALDH7A1 are known to be pathogenic (PMID: 16491085, 20554659). A similar copy number variant has been observed in individual(s) with pyridoxine-dependent epilepsy (PMID: 31737911). For these reasons, this variant has been classified as Pathogenic.

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