Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Women's Health and Genetics/Laboratory Corporation of America, |
RCV001193291 | SCV001362027 | uncertain significance | not specified | 2019-08-19 | criteria provided, single submitter | clinical testing | Variant summary: MSH2 c.2211-7G>A alters a non-conserved nucleotide located close to a canonical splice site and therefore could affect mRNA splicing, leading to a significantly altered protein sequence. 5/5 computational tools predict no significant impact on normal splicing. However, these predictions have yet to be confirmed by functional studies. The variant was absent in 251176 control chromosomes (gnomAD). 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.2211-7G>A in individuals affected with Hereditary Non-Polyposis Colon Cancer and no experimental evidence demonstrating its impact on protein function have been reported. A ClinVar submission (evaluation after 2014) classified the variant as likely benign. Based on the evidence outlined above, the variant was classified as uncertain significance. |
Invitae | RCV001393988 | SCV001595667 | likely benign | Hereditary nonpolyposis colorectal neoplasms | 2022-08-23 | criteria provided, single submitter | clinical testing | |
Center for Genomic Medicine, |
RCV001193291 | SCV002552259 | likely benign | not specified | 2023-08-15 | criteria provided, single submitter | clinical testing | |
Color Diagnostics, |
RCV003584645 | SCV004356729 | likely benign | Hereditary cancer-predisposing syndrome | 2022-07-12 | criteria provided, single submitter | clinical testing | |
All of Us Research Program, |
RCV004003743 | SCV004827428 | likely benign | Lynch syndrome | 2023-05-16 | criteria provided, single submitter | clinical testing |