Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000649164 | SCV000770989 | pathogenic | Myofibrillar myopathy 5; Distal myopathy with posterior leg and anterior hand involvement; Hypertrophic cardiomyopathy 26; Dilated Cardiomyopathy, Dominant | 2022-10-28 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Leu2645Cysfs*23) in the FLNC gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 81 amino acid(s) of the FLNC protein. For these reasons, this variant has been classified as Pathogenic. This variant disrupts a region of the FLNC protein in which other variant(s) (p.Trp2710*) have been determined to be pathogenic (PMID: 15929027, 22961544, 26472074, 26969713). This suggests that this is a clinically significant region of the protein, and that variants that disrupt it are likely to be disease-causing. ClinVar contains an entry for this variant (Variation ID: 539430). This variant has not been reported in the literature in individuals affected with FLNC-related conditions. This variant is not present in population databases (gnomAD no frequency). |
Ce |
RCV003311868 | SCV004010725 | likely pathogenic | not provided | 2023-06-01 | criteria provided, single submitter | clinical testing | FLNC: PVS1:Strong, PM2, PS4:Moderate |