Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000792621 | SCV000931927 | uncertain significance | Fetal akinesia deformation sequence 1; Congenital myasthenic syndrome 9 | 2018-09-19 | criteria provided, single submitter | clinical testing | This sequence change falls in intron 6 of the MUSK gene. It does not directly change the encoded amino acid sequence of the MUSK protein. This variant is present in population databases (rs762500701, ExAC 0.03%). This variant has not been reported in the literature in individuals with MUSK-related disease. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site, but this prediction has not been confirmed by published transcriptional studies. 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. |