Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease, |
RCV001256680 | SCV001433052 | likely pathogenic | Conduction disorder of the heart | 2019-09-12 | criteria provided, single submitter | clinical testing | |
Invitae | RCV002568754 | SCV003246271 | pathogenic | Myofibrillar myopathy 5; Distal myopathy with posterior leg and anterior hand involvement; Hypertrophic cardiomyopathy 26; Dilated Cardiomyopathy, Dominant | 2021-12-11 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Val1896Trpfs*57) 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). For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 978274). 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). |