Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Genetics and Molecular Pathology, |
RCV003447738 | SCV004175421 | likely pathogenic | Congenital myasthenic syndrome 9 | 2023-01-09 | criteria provided, single submitter | clinical testing | The MUSK c.790_791delCGinsTGC variant is classified as Likely Pathogenic (PVS1, PM2) This MUSK c.790_791delCGinsTGC variant is located in exon 7/15 and is predicted to cause a shift in the reading frame at codon 264, resulting in a premature stop codon and become the target of nonsense-mediated decay (PVS1). This variant is absent from population databases (PM2). This variant has not been reported in dbSNP, ClinVar or HGMD. |