Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Invitae | RCV001384831 | SCV001584481 | pathogenic | Myofibrillar myopathy 5; Distal myopathy with posterior leg and anterior hand involvement; Hypertrophic cardiomyopathy 26; Dilated Cardiomyopathy, Dominant | 2022-07-12 | criteria provided, single submitter | clinical testing | This variant is not present in population databases (gnomAD no frequency). For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 1072180). This variant has not been reported in the literature in individuals affected with FLNC-related conditions. This sequence change creates a premature translational stop signal (p.Tyr833*) 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). |
| Ambry Genetics | RCV002432069 | SCV002740926 | pathogenic | Cardiovascular phenotype | 2022-01-05 | criteria provided, single submitter | clinical testing | The p.Y833* pathogenic mutation (also known as c.2499C>A), located in coding exon 16 of the FLNC gene, results from a C to A substitution at nucleotide position 2499. This changes the amino acid from a tyrosine to a stop codon within coding exon 16. 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. |