Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV003107411 | SCV003793592 | pathogenic | Myofibrillar myopathy 5; Distal myopathy with posterior leg and anterior hand involvement; Hypertrophic cardiomyopathy 26; Dilated Cardiomyopathy, Dominant | 2022-05-27 | criteria provided, single submitter | clinical testing | This variant results in the deletion of exons 11-22 and part of exons 10 and 23 (c.1570_4087del) of the FLNC gene. This deletion is out-of-frame, and is expected to create a premature termination codon and result in an absent or disrupted protein product. Loss-of-function variants in FLNC are known to be pathogenic (PMID: 27908349). This variant has not been reported in the literature in individuals affected with FLNC-related conditions. For these reasons, this variant has been classified as Pathogenic. |