Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV003653261 | SCV000935491 | uncertain significance | Familial adenomatous polyposis 1 | 2019-07-27 | criteria provided, single submitter | clinical testing | This variant is not present in population databases (ExAC no frequency). 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 output the following: SIFT: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The arginine amino acid residue is found in multiple mammalian species, suggesting that this missense change does not adversely affect protein function. These predictions have not been confirmed by published functional studies and their clinical significance is uncertain. This variant has not been reported in the literature in individuals with APC-related conditions. ClinVar contains an entry for this variant (Variation ID: 559958). This sequence change replaces lysine with arginine at codon 2051 of the APC protein (p.Lys2051Arg). The lysine residue is moderately conserved and there is a small physicochemical difference between lysine and arginine. |
3DMed Clinical Laboratory Inc | RCV000677769 | SCV000803925 | uncertain significance | Rectum adenocarcinoma | 2017-11-15 | no assertion criteria provided | clinical testing |