Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000468668 | SCV000548850 | uncertain significance | Charcot-Marie-Tooth disease type 2 | 2016-05-08 | criteria provided, single submitter | clinical testing | In summary, this variant is a novel missense change with uncertain impact on protein function. 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: "Benign"; Align-GVGD: "Class C65"). This variant is not present in population databases (ExAC no frequency) and has not been reported in the literature in individuals with a LMNA-related disease. This sequence change replaces isoleucine with serine at codon 297 of the LMNA protein (p.Ile297Ser). The isoleucine residue is highly conserved and there is a large physicochemical difference between isoleucine and serine. |