ClinVar Miner

Submissions for variant NM_005592.4(MUSK):c.868del (p.Glu290fs)

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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 RCV003804015 SCV004589804 pathogenic Fetal akinesia deformation sequence 1; Congenital myasthenic syndrome 9 2023-03-28 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. 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.Glu290Argfs*14) 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).

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