Total submissions: 9
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV000227770 | SCV000284091 | benign | Hereditary nonpolyposis colorectal neoplasms | 2024-10-13 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000480195 | SCV000565181 | uncertain significance | not provided | 2023-12-08 | criteria provided, single submitter | clinical testing | Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant does not alter protein structure/function; Published functional studies suggest a neutral effect of mismatch repair (MMR) function (PMID: 33357406); This variant is associated with the following publications: (PMID: 18822302, 21120944, 32906206, 33471991, 33357406) |
Ambry Genetics | RCV000563870 | SCV000662219 | likely benign | Hereditary cancer-predisposing syndrome | 2023-02-15 | 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. |
Color Diagnostics, |
RCV000563870 | SCV000684903 | uncertain significance | Hereditary cancer-predisposing syndrome | 2022-08-23 | criteria provided, single submitter | clinical testing | This missense variant replaces glutamine with lysine at codon 4 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). To our knowledge, functional studies have not been reported for this variant. This variant has been reported in individuals affected with breast cancer in the literature (PMID: 33471991). This variant has not been identified 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. |
Sema4, |
RCV000563870 | SCV002528812 | uncertain significance | Hereditary cancer-predisposing syndrome | 2022-03-09 | criteria provided, single submitter | curation | |
Center for Genomic Medicine, |
RCV002465579 | SCV002760628 | uncertain significance | not specified | 2023-08-15 | criteria provided, single submitter | clinical testing | |
Baylor Genetics | RCV003469135 | SCV004193920 | uncertain significance | Lynch syndrome 1 | 2024-03-18 | criteria provided, single submitter | clinical testing | |
Institute for Biomarker Research, |
RCV000563870 | SCV004228036 | uncertain significance | Hereditary cancer-predisposing syndrome | 2023-11-21 | criteria provided, single submitter | clinical testing | |
All of Us Research Program, |
RCV003998750 | SCV004826205 | uncertain significance | Lynch syndrome | 2024-09-23 | criteria provided, single submitter | clinical testing | This missense variant replaces glutamine with lysine at codon 4 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). To our knowledge, functional studies have not been reported for this variant. This variant has been reported in individuals affected with breast cancer in the literature (PMID: 33471991). This variant has not been identified 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. |