Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001951511 | SCV002242841 | pathogenic | Fetal akinesia deformation sequence 1; Congenital myasthenic syndrome 9 | 2021-08-05 | criteria provided, single submitter | clinical testing | This variant is a gross deletion of the genomic region encompassing exon(s) 1-14 of the MUSK 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 MUSK are known to be pathogenic (PMID: 8653786, 25612909, 25695962, 25900532). This variant has not been reported in the literature in individuals affected with MUSK-related conditions. For these reasons, this variant has been classified as Pathogenic. |