Total submissions: 10
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV000218037 | SCV000275866 | likely benign | Hereditary cancer-predisposing syndrome | 2021-09-30 | 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. |
Gene |
RCV000480533 | SCV000571659 | likely benign | not provided | 2019-12-03 | criteria provided, single submitter | clinical testing | This variant is associated with the following publications: (PMID: 25186627, 22290698, 30578687) |
Invitae | RCV000630048 | SCV000751004 | likely benign | Hereditary nonpolyposis colorectal neoplasms | 2024-01-21 | criteria provided, single submitter | clinical testing | |
Color Diagnostics, |
RCV000218037 | SCV000903938 | likely benign | Hereditary cancer-predisposing syndrome | 2016-10-16 | criteria provided, single submitter | clinical testing | |
Division of Medical Genetics, |
RCV001257464 | SCV001434264 | uncertain significance | Colorectal cancer, hereditary nonpolyposis, type 2 | 2020-05-05 | criteria provided, single submitter | clinical testing | To our knowledge, this sequence variant has not been previously reported in the literature. This variant has an overall allele frequency of 0.00004242 in the Broad Institute gnomAD Browser (https://gnomad.broadinstitute.org/). In silico analyses predict that this variant may not alter protein structure/function. At this time, it is unknown whether or not this variant increases cancer risk; therefore, we interpret it as a variant of uncertain significance. BP4 |
Quest Diagnostics Nichols Institute San Juan Capistrano | RCV000480533 | SCV004220070 | uncertain significance | not provided | 2022-12-22 | criteria provided, single submitter | clinical testing | The frequency of this variant in the general population, 0.00025 (9/35440 chromosomes in Latino/Admixed American subpopulation, http://gnomad.broadinstitute.org), is higher than would generally be expected for pathogenic variants in this gene. In the published literature, the variant has been reported in individuals with breast cancer (PMIDs: 33471991 (2021), 25186627 (2015), see also LOVD (http://databases.lovd.nl/shared/genes/MLH1)),as well as in an individual with cholangiocarcinoma (PMID: 30578687 (2019)). 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. |
CHEO Genetics Diagnostic Laboratory, |
RCV003492408 | SCV004240741 | uncertain significance | Breast and/or ovarian cancer | 2022-07-18 | criteria provided, single submitter | clinical testing | |
All of Us Research Program, |
RCV003997113 | SCV004841017 | likely benign | Lynch syndrome | 2023-03-04 | criteria provided, single submitter | clinical testing | |
Myriad Genetics, |
RCV001257464 | SCV004931815 | likely benign | Colorectal cancer, hereditary nonpolyposis, type 2 | 2024-03-25 | criteria provided, single submitter | clinical testing | This variant is considered likely benign. This variant is strongly associated with less severe personal and family histories of cancer, typical for individuals without pathogenic variants in this gene [PMID: 27363726]. |
Department of Pathology and Laboratory Medicine, |
RCV000480533 | SCV001552575 | uncertain significance | not provided | no assertion criteria provided | clinical testing |