Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV002371023 | SCV002672430 | pathogenic | Cardiovascular phenotype | 2021-12-09 | criteria provided, single submitter | clinical testing | The c.7235_7236delCT pathogenic mutation, located in coding exon 43 of the FLNC gene, results from a deletion of two nucleotides at nucleotide positions 7235 to 7236, causing a translational frameshift with a predicted alternate stop codon p.T2412Sfs*29). This variant is considered to be rare based on population cohorts in the Genome Aggregation Database (gnomAD). 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. |
Institute of Human Genetics, |
RCV002463377 | SCV002757808 | likely pathogenic | Hypertrophic cardiomyopathy 26 | 2022-08-24 | criteria provided, single submitter | clinical testing | |
Invitae | RCV003103376 | SCV002982287 | pathogenic | Myofibrillar myopathy 5; Distal myopathy with posterior leg and anterior hand involvement; Hypertrophic cardiomyopathy 26; Dilated Cardiomyopathy, Dominant | 2023-11-02 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Thr2412Serfs*29) 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 present in population databases (rs776889134, gnomAD 0.0009%). 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: 1757829). For these reasons, this variant has been classified as Pathogenic. |