Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000760650 | SCV000890542 | likely pathogenic | not provided | 2018-07-20 | criteria provided, single submitter | clinical testing | The Y1826X likely pathogenic variant in the FLNC gene has not been published as pathogenic or been reported as benign to our knowledge. Y1826X is predicted to cause loss of normal protein function either by protein truncation or nonsense-mediated mRNA decay. Other nonsense variants in the FLNC gene have been reported in Human Gene Mutation Database in association with cardiomyopathy (Stenson et al., 2014). Furthermore, the Y1826X variant is not observed in large population cohorts (Lek et al., 2016).In summary, Y1826X in the FLNC gene is interpreted as a likely pathogenic variant. |
Invitae | RCV001388295 | SCV001589228 | pathogenic | Myofibrillar myopathy 5; Distal myopathy with posterior leg and anterior hand involvement; Hypertrophic cardiomyopathy 26; Dilated Cardiomyopathy, Dominant | 2023-10-22 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Tyr1826*) 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. ClinVar contains an entry for this variant (Variation ID: 620286). For these reasons, this variant has been classified as Pathogenic. |