ClinVar Miner

Submissions for variant NM_005592.4(MUSK):c.790_791delinsTGC (p.Arg264fs)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetics and Molecular Pathology, SA 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.

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