ClinVar Miner

Submissions for variant NM_005592.4(MUSK):c.1840del (p.Glu614fs)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003792424 SCV004588573 pathogenic Fetal akinesia deformation sequence 1; Congenital myasthenic syndrome 9 2022-10-31 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This variant disrupts a region of the MUSK protein in which other variant(s) (p.Leu821Phe) have been determined to be pathogenic (Invitae). This suggests that this is a clinically significant region of the protein, and that variants that disrupt it are likely to be disease-causing. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. This variant has not been reported in the literature in individuals affected with MUSK-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Glu614Lysfs*26) in the MUSK gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 256 amino acid(s) of the MUSK protein.

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