ClinVar Miner

Submissions for variant NM_005592.4(MUSK):c.496C>T (p.Arg166Ter)

gnomAD frequency: 0.00001  dbSNP: rs763656507
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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 RCV001053740 SCV001218016 pathogenic Fetal akinesia deformation sequence 1; Congenital myasthenic syndrome 9 2023-12-19 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg166*) 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 present in population databases (rs763656507, gnomAD 0.0009%). This premature translational stop signal has been observed in individuals with congenital myasthenic syndrome (PMID: 25900532, 29704306). ClinVar contains an entry for this variant (Variation ID: 849716). For these reasons, this variant has been classified as Pathogenic.

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