Total submissions: 7
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
International Society for Gastrointestinal Hereditary Tumours |
RCV000203618 | SCV000107568 | likely benign | Lynch syndrome 1 | 2015-11-24 | reviewed by expert panel | research | |
Invitae | RCV000076539 | SCV000166276 | benign | Hereditary nonpolyposis colorectal neoplasms | 2023-11-27 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV000129528 | SCV000184304 | likely benign | Hereditary cancer-predisposing syndrome | 2020-01-06 | 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. |
Gene |
RCV000424772 | SCV000518413 | likely benign | not provided | 2018-09-11 | criteria provided, single submitter | clinical testing | This variant is associated with the following publications: (PMID: 32849802, 16995940, 26333163, 14526391, 20459533, 11162093, 22290698, 17101317, 8880570, 17594722, 12124176, 9774676, 24362816) |
Mendelics | RCV000203618 | SCV001135763 | benign | Lynch syndrome 1 | 2019-05-28 | criteria provided, single submitter | clinical testing | |
Color Diagnostics, |
RCV000129528 | SCV001357010 | likely benign | Hereditary cancer-predisposing syndrome | 2023-03-28 | criteria provided, single submitter | clinical testing | |
All of Us Research Program, |
RCV003997167 | SCV004826653 | uncertain significance | Lynch syndrome | 2023-06-28 | criteria provided, single submitter | clinical testing | This missense variant replaces threonine with arginine at codon 905 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). Functional studies have shown that this variant does not significantly impact MSH2 activity as determined by in vitro mismatch repair activity, ATPase activity and interaction with its binding partners (PMID: 9774676, 12124176). This variant has been reported in a family affected with hereditary non-polyposis colon cancer syndrome (PMID: 8880570). This variant has been identified in 3/282122 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. |