Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001936959 | SCV002225678 | uncertain significance | Fetal akinesia deformation sequence 1; Congenital myasthenic syndrome 9 | 2021-11-18 | criteria provided, single submitter | clinical testing | 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. This variant has not been reported in the literature in individuals affected with MUSK-related conditions. This variant is present in population databases (no rsID available, gnomAD 0.0009%). This variant, c.760_762dup, results in the insertion of 1 amino acid(s) of the MUSK protein (p.Ser254dup), but otherwise preserves the integrity of the reading frame. |