Total submissions: 7
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Ambry Genetics | RCV000214073 | SCV000274036 | likely benign | Hereditary cancer-predisposing syndrome | 2019-03-25 | criteria provided, single submitter | clinical testing | This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity. |
| Labcorp Genetics |
RCV000461981 | SCV000552444 | benign | Familial adenomatous polyposis 1 | 2025-01-30 | criteria provided, single submitter | clinical testing | |
| Counsyl | RCV000461981 | SCV000784763 | uncertain significance | Familial adenomatous polyposis 1 | 2017-11-13 | criteria provided, single submitter | clinical testing | |
| Color Diagnostics, |
RCV000214073 | SCV000906434 | uncertain significance | Hereditary cancer-predisposing syndrome | 2024-09-25 | criteria provided, single submitter | clinical testing | This missense variant replaces threonine with serine at codon 1459 of the APC protein. Computational prediction suggests that this variant may not impact protein structure and function (internally defined REVEL score threshold <= 0.5, PMID: 27666373). To our knowledge, functional studies have not been reported for this variant. This variant has not been reported in individuals affected with APC-related disorders in the literature. This variant has been identified in 2/251194 chromosomes in the general population by the Genome Aggregation Database (gnomAD). The available evidence is insufficient to determine the role of this variant in disease conclusively. Therefore, this variant is classified as a Variant of Uncertain Significance. |
| Myriad Genetics, |
RCV000461981 | SCV004019010 | uncertain significance | Familial adenomatous polyposis 1 | 2023-02-15 | criteria provided, single submitter | clinical testing | This variant is classified as a variant of uncertain significance as there is insufficient evidence to determine its impact on protein function and/or cancer risk. |
| Quest Diagnostics Nichols Institute San Juan Capistrano | RCV003477717 | SCV004219407 | uncertain significance | not provided | 2022-12-22 | criteria provided, single submitter | clinical testing | To the best of our knowledge, the variant has not been reported in the published literature. The frequency of this variant in the general population, 0.000008 (2/251194 chromosomes, http://gnomad.broadinstitute.org), is uninformative in assessment of its pathogenicity. Analysis of this variant using bioinformatics tools for the prediction of the effect of amino acid changes on protein structure and function yielded predictions that this variant is benign. Based on the available information, we are unable to determine the clinical significance of this variant. |
| All of Us Research Program, |
RCV003997841 | SCV004837925 | likely benign | Classic or attenuated familial adenomatous polyposis | 2023-09-17 | criteria provided, single submitter | clinical testing |