Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV001718848 | SCV000513677 | likely benign | not provided | 2020-02-29 | criteria provided, single submitter | clinical testing | |
Labcorp Genetics |
RCV000477540 | SCV000561469 | likely benign | Hereditary nonpolyposis colorectal neoplasms | 2023-10-26 | criteria provided, single submitter | clinical testing | |
Color Diagnostics, |
RCV001186159 | SCV001352510 | likely benign | Hereditary cancer-predisposing syndrome | 2023-11-22 | criteria provided, single submitter | clinical testing | |
Women's Health and Genetics/Laboratory Corporation of America, |
RCV000420953 | SCV001737758 | likely benign | not specified | 2022-09-27 | criteria provided, single submitter | clinical testing | Variant summary: MSH6 c.458-8C>G alters a conserved nucleotide located close to a canonical splice site and therefore could affect mRNA splicing, leading to a significantly altered protein sequence. 4/4 computational tools predict no significant impact on normal splicing. However, these predictions have yet to be confirmed by functional studies. The variant allele was found at a frequency of 4e-06 in 249796 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.458-8C>G in individuals affected with Hereditary Nonpolyposis Colorectal Cancer and no experimental evidence demonstrating its impact on protein function have been reported. Co-occurrence with a pathogenic variant has been reported (MSH2 c.34dupG, p.E12fs*70), providing supporting evidence for a benign role. Three clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar after 2014 without evidence for independent evaluation (likely benign n=2, VUS n=1). Based on the evidence outlined above, the variant was classified as likely benign. |
All of Us Research Program, |
RCV003995970 | SCV004822615 | likely benign | Lynch syndrome | 2023-12-13 | criteria provided, single submitter | clinical testing |