Total submissions: 3
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Invitae | RCV000649165 | SCV000770990 | uncertain significance | Myofibrillar myopathy 5; Distal myopathy with posterior leg and anterior hand involvement; Hypertrophic cardiomyopathy 26; Dilated Cardiomyopathy, Dominant | 2024-01-15 | criteria provided, single submitter | clinical testing | This variant, c.5451_5453del, results in the deletion of 1 amino acid(s) of the FLNC protein (p.Asn1817del), but otherwise preserves the integrity of the reading frame. 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: 539431). Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. |
| Fulgent Genetics, |
RCV002485459 | SCV002789532 | uncertain significance | Myofibrillar myopathy 5; Distal myopathy with posterior leg and anterior hand involvement; Hypertrophic cardiomyopathy 26 | 2021-08-30 | criteria provided, single submitter | clinical testing | |
| Ambry Genetics | RCV003162969 | SCV003913405 | uncertain significance | Cardiovascular phenotype | 2023-01-31 | criteria provided, single submitter | clinical testing | The c.5451_5453delCAA variant (also known as p.N1817del) is located in coding exon 33 of the FLNC gene. This variant results from an in-frame CAA deletion at nucleotide positions 5451 to 5453. This results in the in-frame deletion of an asparagine at codon 1817. This amino acid position is highly conserved in available vertebrate species. In addition, this alteration is predicted to be deleterious by in silico analysis (Choi Y et al. PLoS ONE. 2012; 7(10):e46688). Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. |