ClinVar Miner

Submissions for variant NC_000022.11:g.(?_40346510)_(40366542_?)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 RCV001032158 SCV001195465 pathogenic Adenylosuccinate lyase deficiency 2019-10-01 criteria provided, single submitter clinical testing A gross deletion of the genomic region encompassing the full coding sequence of the ADSL 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 variant has not been reported in the literature in individuals with ADSL-related conditions. Loss-of-function variants in ADSL are known to be pathogenic (PMID: 10888601, 20177786). For these reasons, this variant has been classified as Pathogenic.

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