Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV003801653 | SCV004596380 | pathogenic | Myofibrillar myopathy 5; Distal myopathy with posterior leg and anterior hand involvement; Hypertrophic cardiomyopathy 26; Dilated Cardiomyopathy, Dominant | 2023-06-16 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Gln79*) in the FLNC gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in FLNC are known to be pathogenic (PMID: 27908349). Information on the frequency of this variant in the gnomAD database is not available, as this variant may be reported differently in the database. For these reasons, this variant has been classified as Pathogenic. This variant has not been reported in the literature in individuals affected with FLNC-related conditions. |