Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Color Diagnostics, |
RCV000774003 | SCV000907703 | uncertain significance | Hereditary cancer-predisposing syndrome | 2019-06-03 | criteria provided, single submitter | clinical testing | |
Invitae | RCV003768357 | SCV002185139 | uncertain significance | Familial adenomatous polyposis 1 | 2022-06-11 | criteria provided, single submitter | clinical testing | ClinVar contains an entry for this variant (Variation ID: 629302). 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 disruptive. 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 affected with APC-related conditions. This sequence change replaces tyrosine, which is neutral and polar, with cysteine, which is neutral and slightly polar, at codon 133 of the APC protein (p.Tyr133Cys). This variant is not present in population databases (gnomAD no frequency). |