ClinVar Miner

Submissions for variant NC_000007.14:g.(?_66076062)_(66092932_?)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 RCV000807933 SCV000948013 pathogenic Argininosuccinate lyase deficiency 2019-01-08 criteria provided, single submitter clinical testing A gross deletion of the genomic region encompassing the full coding sequence of the ASL gene has been identified. The boundaries of this event are unknown as the deletion extends beyond the assayed region for this gene and therefore may encompass additional genes. This deletion has not been reported in the literature in individuals with ASL-related conditions. Loss-of-function variants in ASL are known to be pathogenic (PMID: 2263616, 24166829). For these reasons, this variant has been classified as Pathogenic.

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