Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001241233 | SCV001414239 | pathogenic | Myofibrillar myopathy 5; Distal myopathy with posterior leg and anterior hand involvement; Hypertrophic cardiomyopathy 26; Dilated Cardiomyopathy, Dominant | 2021-08-07 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in FLNC are known to be pathogenic (PMID: 27908349). This variant has been observed in individual(s) with dilated cardiomyopathy (PMID: 28436997). ClinVar contains an entry for this variant (Variation ID: 70588). This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Arg1354*) in the FLNC gene. It is expected to result in an absent or disrupted protein product. |
Ambry Genetics | RCV002321562 | SCV002631347 | pathogenic | Cardiovascular phenotype | 2021-01-05 | criteria provided, single submitter | clinical testing | The p.R1354* pathogenic mutation (also known as c.4060C>T), located in coding exon 23 of the FLNC gene, results from a C to T substitution at nucleotide position 4060. This changes the amino acid from an arginine to a stop codon within coding exon 23. This mutation was reported in an individual with familial dilated cardiomyopathy (Janin A et al. Clin Genet, 2017 Dec;92:616-623). In addition to the clinical data presented in the literature, 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. |
Gene |
RCV003229806 | SCV003927578 | pathogenic | not provided | 2023-05-26 | criteria provided, single submitter | clinical testing | Not observed at significant frequency in large population cohorts (gnomAD); Nonsense 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: 32112656, 28436997) |