ClinVar Miner

Submissions for variant NM_005592.4(MUSK):c.1826del (p.Lys609fs)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV003802948 SCV004593020 pathogenic Fetal akinesia deformation sequence 1; Congenital myasthenic syndrome 9 2022-11-29 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. 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.Lys609Argfs*31) in the MUSK gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 261 amino acid(s) of the MUSK protein.

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