Total submissions: 6
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Ambry Genetics | RCV000214812 | SCV000276873 | likely benign | Hereditary cancer-predisposing syndrome | 2022-11-03 | 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. |
| Center for Human Genetics, |
RCV000659880 | SCV000781771 | likely benign | Lynch syndrome 1 | 2016-11-01 | criteria provided, single submitter | clinical testing | |
| Color Diagnostics, |
RCV000214812 | SCV000914009 | uncertain significance | Hereditary cancer-predisposing syndrome | 2018-12-27 | criteria provided, single submitter | clinical testing | |
| Invitae | RCV001067169 | SCV001232212 | uncertain significance | Hereditary nonpolyposis colorectal neoplasms | 2024-01-23 | criteria provided, single submitter | clinical testing | This sequence change replaces phenylalanine, which is neutral and non-polar, with leucine, which is neutral and non-polar, at codon 296 of the MSH2 protein (p.Phe296Leu). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with MSH2-related conditions. ClinVar contains an entry for this variant (Variation ID: 232681). Advanced modeling performed at Invitae incorporating data from internal and/or published experimental studies (PMID: 33357406) indicates that this missense variant is not expected to disrupt MSH2 function with a negative predictive value of 95%. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. |
| Baylor Genetics | RCV000659880 | SCV004196875 | uncertain significance | Lynch syndrome 1 | 2023-01-24 | criteria provided, single submitter | clinical testing | |
| All of Us Research Program, |
RCV003997995 | SCV004831600 | uncertain significance | Lynch syndrome | 2023-10-30 | criteria provided, single submitter | clinical testing |