Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000560908 | SCV000645457 | pathogenic | Autosomal recessive limb-girdle muscular dystrophy type 2A | 2016-05-23 | criteria provided, single submitter | clinical testing | A gross deletion of the genomic region encompassing the full coding sequence of the CAPN3 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. Gross deletions in CAPN3 are known to be pathogenic (PMID: 10330340, 25987458), and a similar deletion encompassing the entire gene has been previously reported in an affected individual (PMID: 24715573). For these reasons, this variant has been classified as Pathogenic. |