Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV002881923 | SCV003241604 | pathogenic | Myofibrillar myopathy 5; Distal myopathy with posterior leg and anterior hand involvement; Hypertrophic cardiomyopathy 26; Dilated Cardiomyopathy, Dominant | 2023-09-08 | criteria provided, single submitter | clinical testing | ClinVar contains an entry for this variant (Variation ID: 2036320). This sequence change creates a premature translational stop signal (p.Thr439Hisfs*30) 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). This variant is not present in population databases (gnomAD no frequency). 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. |
Prevention |
RCV003898562 | SCV004714636 | likely pathogenic | FLNC-related disorder | 2023-10-26 | criteria provided, single submitter | clinical testing | The FLNC c.1315_1328del14 variant is predicted to result in a frameshift and premature protein termination (p.Thr439Hisfs*30). To our knowledge, this variant has not been reported in the literature or in a large population database (http://gnomad.broadinstitute.org), indicating this variant is rare. Frameshift variants in FLNC are expected to be pathogenic. This variant is interpreted as likely pathogenic. |