Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000689043 | SCV000816679 | uncertain significance | Cutis laxa, autosomal recessive, type 1B | 2018-01-31 | criteria provided, single submitter | clinical testing | 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"). 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. This variant has not been reported in the literature in individuals with EFEMP2-related disease. This variant is not present in population databases (ExAC no frequency). This sequence change replaces proline with leucine at codon 404 of the EFEMP2 protein (p.Pro404Leu). The proline residue is highly conserved and there is a moderate physicochemical difference between proline and leucine. |