Total submissions: 12
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV000129044 | SCV000172956 | likely benign | Hereditary cancer-predisposing syndrome | 2019-03-06 | 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. |
Invitae | RCV000199801 | SCV000254385 | benign | Hereditary nonpolyposis colorectal neoplasms | 2024-01-27 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000656877 | SCV000565194 | uncertain significance | not provided | 2022-11-16 | criteria provided, single submitter | clinical testing | In silico analysis supports that this missense variant does not alter protein structure/function; This variant is associated with the following publications: (PMID: 29338072, 29596542, 30212499, 31159747, 34875107) |
Quest Diagnostics Nichols Institute San Juan Capistrano | RCV000656877 | SCV000601434 | uncertain significance | not provided | 2020-06-25 | criteria provided, single submitter | clinical testing | |
Color Diagnostics, |
RCV000129044 | SCV000684938 | uncertain significance | Hereditary cancer-predisposing syndrome | 2023-04-06 | criteria provided, single submitter | clinical testing | This missense variant replaces leucine with valine at codon 488 of the MSH2 protein. Computational prediction is inconclusive regarding the impact of this variant on protein structure and function (internally defined REVEL score threshold 0.5 < inconclusive < 0.7, PMID: 27666373). This variant does not impact MSH2 function in a 6-thioguanine sensitivity assay in haploid human cells (internally defined LOF score threshold <= -1.32, PMID: 33357406). This variant has been reported in an individual referred for hereditary cancer screening (PMID: 31159747). This variant has been identified in 6/251314 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. |
Counsyl | RCV000662760 | SCV000785554 | uncertain significance | Lynch syndrome 1 | 2017-09-13 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000129044 | SCV000822044 | uncertain significance | Hereditary cancer-predisposing syndrome | 2018-08-01 | criteria provided, single submitter | clinical testing | |
Mendelics | RCV000662760 | SCV001135731 | uncertain significance | Lynch syndrome 1 | 2019-05-28 | criteria provided, single submitter | clinical testing | |
Institute for Clinical Genetics, |
RCV000656877 | SCV002009343 | uncertain significance | not provided | 2021-11-03 | criteria provided, single submitter | clinical testing | |
Myriad Genetics, |
RCV000662760 | SCV004018301 | benign | Lynch syndrome 1 | 2023-03-20 | criteria provided, single submitter | clinical testing | This variant is considered benign. This variant has been observed in trans with a known pathogenic variant in one or more individuals lacking clinical features consistent with gene-specific recessive disease. This variant is strongly associated with less severe personal and family histories of cancer, typical for individuals without pathogenic variants in this gene [PMID: 25085752]. |
Baylor Genetics | RCV000662760 | SCV004196226 | uncertain significance | Lynch syndrome 1 | 2023-09-29 | criteria provided, single submitter | clinical testing | |
All of Us Research Program, |
RCV003997475 | SCV004833396 | uncertain significance | Lynch syndrome | 2023-12-13 | criteria provided, single submitter | clinical testing | This missense variant replaces leucine with valine at codon 488 of the MSH2 protein. Computational prediction is inconclusive regarding the impact of this variant on protein structure and function (internally defined REVEL score threshold 0.5 < inconclusive < 0.7, PMID: 27666373). This variant does not impact MSH2 function in a 6-thioguanine sensitivity assay in haploid human cells (internally defined LOF score threshold <= -1.32, PMID: 33357406). This variant has been reported in an individual referred for hereditary cancer screening (PMID: 31159747). This variant has been identified in 6/251314 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. |