ClinVar Miner

Submissions for variant NC_000009.11:g.(?_113431213)_(113441760_?)del

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV002048317 SCV002302285 likely pathogenic Fetal akinesia deformation sequence 1; Congenital myasthenic syndrome 9 2021-04-17 criteria provided, single submitter clinical testing This variant results in the deletion of part of exon 1 of the MUSK gene. It is expected to disrupt RNA splicing. Variants that disrupt the donor or acceptor splice site typically lead to a loss of protein function (PMID: 16199547), and loss-of-function variants in MUSK are known to be pathogenic (PMID: 8653786, 25612909, 25695962, 25900532). This variant has not been reported in the literature in individuals with MUSK-related conditions. In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic.

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