Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
International Society for Gastrointestinal Hereditary Tumours |
RCV000076708 | SCV000107744 | pathogenic | Lynch syndrome | 2013-09-05 | reviewed by expert panel | research | Coding sequence variation resulting in a stop codon |
Ce |
RCV001531919 | SCV001747250 | pathogenic | not provided | 2021-05-01 | criteria provided, single submitter | clinical testing | |
Color Diagnostics, |
RCV003584548 | SCV004356631 | pathogenic | Hereditary cancer-predisposing syndrome | 2023-07-31 | criteria provided, single submitter | clinical testing | This variant deletes 2 nucleotides in exon 4 of the MSH2 gene, creating a frameshift and premature translation stop signal. This variant is expected to result in an absent or non-functional protein product. This variant has been reported in an individual suspected of having Lynch syndrome (PMID: 15849733). This variant has not been identified in the general population by the Genome Aggregation Database (gnomAD). Loss of MSH2 function is a known mechanism of disease (clinicalgenome.org). Based on the available evidence, this variant is classified as Pathogenic. |