Total submissions: 7
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Ambry Genetics | RCV000166329 | SCV000217115 | likely benign | Hereditary cancer-predisposing syndrome | 2022-10-07 | 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 | RCV000232782 | SCV000284153 | benign | Hereditary nonpolyposis colorectal neoplasms | 2024-01-05 | criteria provided, single submitter | clinical testing | |
| Color Diagnostics, |
RCV000166329 | SCV000903536 | likely benign | Hereditary cancer-predisposing syndrome | 2017-02-10 | criteria provided, single submitter | clinical testing | |
| Women's Health and Genetics/Laboratory Corporation of America, |
RCV001194027 | SCV001363263 | uncertain significance | not specified | 2019-12-15 | criteria provided, single submitter | clinical testing | Variant summary: MSH2 c.2528G>A (p.Cys843Tyr) results in a non-conservative amino acid change located in the DNA mismatch repair protein MutS, C-terminal domain (IPR000432) of the encoded protein sequence. Three of five in-silico tools predict a benign effect of the variant on protein function. The variant allele was found at a frequency of 2.8e-05 in 251436 control chromosomes. The available data on variant occurrences in the general population are insufficient to allow any conclusion about variant significance. To our knowledge, no occurrence of c.2528G>A in individuals affected with Lynch Syndrome and no experimental evidence demonstrating its impact on protein function have been reported. Three clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar after 2014 without evidence for independent evaluation (likely benign, n=1; VUS, n=2). Based on the evidence outlined above, the variant was classified as uncertain significance. |
| Gene |
RCV001594863 | SCV001829590 | likely benign | not provided | 2019-12-27 | criteria provided, single submitter | clinical testing | Has not been previously published as pathogenic or benign to our knowledge |
| All of Us Research Program, |
RCV003995501 | SCV004826398 | likely benign | Lynch syndrome | 2023-09-17 | criteria provided, single submitter | clinical testing | |
| True Health Diagnostics | RCV000166329 | SCV000788034 | uncertain significance | Hereditary cancer-predisposing syndrome | 2017-08-14 | no assertion criteria provided | clinical testing |