ClinVar Miner

Submissions for variant NM_005592.4(MUSK):c.31_34del (p.His11fs)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV002862118 SCV003223232 pathogenic Fetal akinesia deformation sequence 1; Congenital myasthenic syndrome 9 2022-07-27 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.His11Phefs*29) in the MUSK gene. 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 is not present in population databases (gnomAD no frequency). 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.

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