ClinVar Miner

Submissions for variant NM_005592.4(MUSK):c.79+2T>G

gnomAD frequency: 0.00004  dbSNP: rs200783529
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000193437 SCV000248096 pathogenic Congenital myasthenic syndrome 4C 2015-01-14 criteria provided, single submitter clinical testing
Invitae RCV001064004 SCV001228876 pathogenic Fetal akinesia deformation sequence 1; Congenital myasthenic syndrome 9 2023-11-13 criteria provided, single submitter clinical testing This sequence change affects a donor splice site in intron 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 is present in population databases (rs200783529, gnomAD 0.009%). Disruption of this splice site has been observed in individuals with congenital myasthenic syndrome (PMID: 25695962; Invitae). ClinVar contains an entry for this variant (Variation ID: 211542). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. For these reasons, this variant has been classified as Pathogenic.
GeneDx RCV002285275 SCV002575268 pathogenic not provided 2022-09-19 criteria provided, single submitter clinical testing Canonical splice site variant predicted to result in a null allele in a gene for which loss of function is a known mechanism of disease; Not observed at significant frequency in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 30429133, 25695962, 31920924)
Baylor Genetics RCV003458197 SCV004183498 pathogenic Congenital myasthenic syndrome 9 2023-09-01 criteria provided, single submitter clinical testing

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