Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000205094 | SCV000260217 | uncertain significance | Jeune thoracic dystrophy | 2015-08-26 | criteria provided, single submitter | clinical testing | In summary, this 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 C0"). This variant is not present in population databases and has not been published in the literature. This sequence change replaces isoleucine with leucine at codon 585 of the IFT80 protein (p.Ile585Leu). The isoleucine residue is moderately conserved and there is a small physicochemical difference between isoleucine and leucine. |