Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000649176 | SCV000771001 | uncertain significance | Myofibrillar myopathy 5; Distal myopathy with posterior leg and anterior hand involvement; Hypertrophic cardiomyopathy 26; Dilated Cardiomyopathy, Dominant | 2017-08-22 | criteria provided, single submitter | clinical testing | This sequence change results in a premature translational stop signal in the FLNC gene (p.Ser2714Lysfs*90). While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 12 amino acids of the FLNC protein. 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 with FLNC-related disease. This variant is not present in population databases (ExAC no frequency). |