Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001045974 | SCV001209852 | pathogenic | Myofibrillar myopathy 5; Distal myopathy with posterior leg and anterior hand involvement; Hypertrophic cardiomyopathy 26; Dilated Cardiomyopathy, Dominant | 2023-06-24 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 843365). 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.Val2064Glyfs*16) 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). |
Revvity Omics, |
RCV001784595 | SCV002023739 | likely pathogenic | not provided | 2022-02-11 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001784595 | SCV002526222 | pathogenic | not provided | 2021-12-09 | criteria provided, single submitter | clinical testing | Frameshift variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss-of-function is a known mechanism of disease; Not observed at significant frequency in large population cohorts (gnomAD); Reported in ClinVar as a pathogenic variant (ClinVar Variant ID# 843365; ClinVar); Has not been previously published as pathogenic or benign to our knowledge |
Ambry Genetics | RCV002355014 | SCV002656872 | pathogenic | Cardiovascular phenotype | 2020-08-18 | criteria provided, single submitter | clinical testing | The c.6190dupG variant, located in coding exon 37 of the FLNC gene, results from a duplication of G at nucleotide position 6190, causing a translational frameshift with a predicted alternate stop codon (p.V2064Gfs*16). This alteration is expected to result in loss of function by premature protein truncation or nonsense-mediated mRNA decay. As such, this alteration is interpreted as a disease-causing mutation. |