Total submissions: 3
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Invitae | RCV002017202 | SCV002291393 | uncertain significance | Myofibrillar myopathy 5; Distal myopathy with posterior leg and anterior hand involvement; Hypertrophic cardiomyopathy 26; Dilated Cardiomyopathy, Dominant | 2023-06-28 | criteria provided, single submitter | clinical testing | ClinVar contains an entry for this variant (Variation ID: 1501088). This missense change has been observed in individual(s) with dilated cardiomyopathy (Invitae). Information on the frequency of this variant in the gnomAD database is not available, as this variant may be reported differently in the database. This sequence change replaces serine, which is neutral and polar, with asparagine, which is neutral and polar, at codon 101 of the FLNC protein (p.Ser101Asn). An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be tolerated. 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. |
| Ambry Genetics | RCV002441187 | SCV002753292 | uncertain significance | Cardiovascular phenotype | 2021-03-23 | criteria provided, single submitter | clinical testing | The c.301_302delTCinsAA variant (also known as p.S101N), located in coding exon 1 of the FLNC gene, results from an in-frame deletion of TC and insertion of AA at nucleotide positions 301 to 302. This results in the substitution of the serine residue for an asparagine residue at codon 101, an amino acid with highly similar properties. This amino acid position is highly conserved in available vertebrate species. In addition, this alteration is predicted to be neutral 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. |
| CHEO Genetics Diagnostic Laboratory, |
RCV003150476 | SCV003838336 | uncertain significance | Cardiomyopathy | 2021-09-21 | criteria provided, single submitter | clinical testing |