Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001385082 | SCV001584797 | pathogenic | Metachromatic leukodystrophy | 2020-09-15 | criteria provided, single submitter | clinical testing | A gross deletion of the genomic region encompassing the full coding sequence of the ARSA 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. A similar variant has been observed in combination with another ARSA variant in individuals affected with metachromatic leukodystrophy (PMID: 30057904, 15211666). Loss-of-function variants in ARSA are known to be pathogenic (PMID: 8962139, 10477432). For these reasons, this variant has been classified as Pathogenic. |