ClinVar Miner

Submissions for variant NM_005592.4(MUSK):c.359-2dup

gnomAD frequency: 0.00001  dbSNP: rs1185775471
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000502025 SCV000595868 uncertain significance not specified 2016-01-05 criteria provided, single submitter clinical testing
Invitae RCV000550121 SCV000656589 uncertain significance Fetal akinesia deformation sequence 1; Congenital myasthenic syndrome 9 2023-11-20 criteria provided, single submitter clinical testing This sequence change falls in intron 3 of the MUSK gene. It does not directly change the encoded amino acid sequence of the MUSK protein. It affects a nucleotide within the consensus splice site. This variant is present in population databases (no rsID available, gnomAD no frequency). This variant has not been reported in the literature in individuals affected with MUSK-related conditions. ClinVar contains an entry for this variant (Variation ID: 435906). Variants that disrupt the consensus splice site are a relatively common cause of aberrant splicing (PMID: 17576681, 9536098). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

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