ClinVar Miner

Submissions for variant NM_005592.4(MUSK):c.2358G>A (p.Trp786Ter)

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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 RCV003066491 SCV003444800 pathogenic Fetal akinesia deformation sequence 1; Congenital myasthenic syndrome 9 2023-10-07 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Trp786*) in the MUSK gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 84 amino acid(s) of the MUSK protein. This variant is not present in population databases (gnomAD no frequency). This premature translational stop signal has been observed in individual(s) with clinical features of fetal akinesia deformation sequence (PMID: 32732226). ClinVar contains an entry for this variant (Variation ID: 2139033). 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. For these reasons, this variant has been classified as Pathogenic.

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