Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV000132104 | SCV000187169 | likely benign | Hereditary cancer-predisposing syndrome | 2017-09-19 | criteria provided, single submitter | clinical testing | Lines of evidence used in support of classification: Other strong data supporting benign classification,In silico models in agreement (benign) |
Invitae | RCV000553891 | SCV000647512 | uncertain significance | Familial adenomatous polyposis 1 | 2018-12-19 | criteria provided, single submitter | clinical testing | This sequence change replaces arginine with glutamine at codon 1450 of the APC protein (p.Arg1450Gln). The arginine residue is moderately conserved and there is a small physicochemical difference between arginine and glutamine. This variant is present in population databases (rs587782678, ExAC 0.006%). This variant has not been reported in the literature in individuals with APC-related disease. ClinVar contains an entry for this variant (Variation ID: 142731). 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 glutamine 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. 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. |
Integrated Genetics/Laboratory Corporation of America | RCV000590671 | SCV000694051 | uncertain significance | not provided | 2015-12-07 | criteria provided, single submitter | clinical testing | |
Color | RCV000132104 | SCV000906433 | uncertain significance | Hereditary cancer-predisposing syndrome | 2018-07-20 | criteria provided, single submitter | clinical testing |