Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000559554 | SCV000650976 | uncertain significance | Myofibrillar myopathy 5; Distal myopathy with posterior leg and anterior hand involvement; Hypertrophic cardiomyopathy 26; Dilated Cardiomyopathy, Dominant | 2021-08-17 | criteria provided, single submitter | clinical testing | This variant has not been reported in the literature in individuals with an FLNC-related disease. In summary, this variant has uncertain impact on FLNC function. The available evidence is currently insufficient to determine its role 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 do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). This variant is not present in population databases (ExAC no frequency). This sequence change replaces proline with threonine at codon 1030 of the FLNC protein (p.Pro1030Thr). The proline residue is moderately conserved and there is a small physicochemical difference between proline and threonine. |