Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001063932 | SCV001228802 | pathogenic | Hereditary nonpolyposis colorectal neoplasms | 2019-12-17 | criteria provided, single submitter | clinical testing | This variant has been reported in individuals in the Leiden Open-source Variation Database (PMID: 21520333). For these reasons, this variant has been classified as Pathogenic. This variant disrupts the C-terminus of the MSH2 protein. Other variant(s) that disrupt this region (p.Leu888Cysfs*4) have been determined to be pathogenic (PMID: 9222765, 8640829). This suggests that variants that disrupt this region of the protein are likely to be causative of disease. This variant is not present in population databases (ExAC no frequency). This sequence change results in a premature translational stop signal in the MSH2 gene (p.Arg877*). While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 58 amino acids of the MSH2 protein. |