Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Ambry Genetics | RCV002364334 | SCV002660871 | uncertain significance | Cardiovascular phenotype | 2022-05-11 | criteria provided, single submitter | clinical testing | The c.6544_6546delAGC variant (also known as p.S2182del) is located in coding exon 40 of the FLNC gene. This variant results from an in-frame AGC deletion at nucleotide positions 6544 to 6546. This results in the in-frame deletion of a serine at codon 2182. In addition, this alteration is predicted to be neutral by in silico analysis (Choi Y et al. PLoS ONE. 2012; 7(10):e46688). This amino acid position is highly conserved in available vertebrate species. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. |
| Invitae | RCV003776278 | SCV004595900 | uncertain significance | 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 variant, c.6544_6546del, results in the deletion of 1 amino acid(s) of the FLNC protein (p.Ser2182del), 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: 1754123). 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. |