Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000529991 | SCV000659719 | pathogenic | Myofibrillar myopathy 5; Distal myopathy with posterior leg and anterior hand involvement; Hypertrophic cardiomyopathy 26; Dilated Cardiomyopathy, Dominant | 2022-07-23 | criteria provided, single submitter | clinical testing | ClinVar contains an entry for this variant (Variation ID: 478127). 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. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Leu1573Cysfs*34) 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). |
Mayo Clinic Laboratories, |
RCV003480697 | SCV004226792 | likely pathogenic | not provided | 2023-05-04 | criteria provided, single submitter | clinical testing | PM2_supporting, PVS1 |