Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Color Diagnostics, |
RCV001183856 | SCV001349698 | uncertain significance | Hereditary cancer-predisposing syndrome | 2019-01-29 | criteria provided, single submitter | clinical testing | |
Invitae | RCV003770032 | SCV002303578 | uncertain significance | Familial adenomatous polyposis 1 | 2021-02-12 | criteria provided, single submitter | clinical testing | This variant has not been reported in the literature in individuals with APC-related conditions. ClinVar contains an entry for this variant (Variation ID: 923282). This variant is not present in population databases (ExAC no frequency). This sequence change replaces valine with isoleucine at codon 1476 of the APC protein (p.Val1476Ile). The valine residue is highly conserved and there is a small physicochemical difference between valine and isoleucine. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated, but 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. |