Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000559888 | SCV000659724 | pathogenic | Myofibrillar myopathy 5; Distal myopathy with posterior leg and anterior hand involvement; Hypertrophic cardiomyopathy 26; Dilated Cardiomyopathy, Dominant | 2023-12-30 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Glu2458Serfs*71) 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: 478132). For these reasons, this variant has been classified as Pathogenic. |
Gene |
RCV001584364 | SCV001811884 | pathogenic | not provided | 2023-05-26 | criteria provided, single submitter | clinical testing | Has not been previously published as pathogenic or benign in association with an FLNC-related disorder to our knowledge; Not observed at significant frequency in large population cohorts (gnomAD); 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; This variant is associated with the following publications: (PMID: 35699965) |
Ambry Genetics | RCV002384273 | SCV002675028 | pathogenic | Cardiovascular phenotype | 2020-11-19 | criteria provided, single submitter | clinical testing | The c.7371delT pathogenic mutation, located in coding exon 44 of the FLNC gene, results from a deletion of one nucleotide at nucleotide position 7371, causing a translational frameshift with a predicted alternate stop codon (p.E2458Sfs*71). 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. |