Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Invitae | RCV002044455 | SCV002116892 | uncertain significance | Myofibrillar myopathy 5; Distal myopathy with posterior leg and anterior hand involvement; Hypertrophic cardiomyopathy 26; Dilated Cardiomyopathy, Dominant | 2022-09-01 | criteria provided, single submitter | clinical testing | This variant has not been reported in the literature in individuals affected with FLNC-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces glutamic acid, which is acidic and polar, with lysine, which is basic and polar, at codon 2700 of the FLNC protein (p.Glu2700Lys). ClinVar contains an entry for this variant (Variation ID: 1348708). 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. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). |
| Ambry Genetics | RCV004038808 | SCV004871167 | uncertain significance | Cardiovascular phenotype | 2024-02-05 | criteria provided, single submitter | clinical testing | The c.8098G>A (p.E2700K) alteration is located in exon 48 (coding exon 48) of the FLNC gene. This alteration results from a G to A substitution at nucleotide position 8098, causing the glutamic acid (E) at amino acid position 2700 to be replaced by a lysine (K). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |