Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
International Society for Gastrointestinal Hereditary Tumours |
RCV000075025 | SCV000108246 | pathogenic | Lynch syndrome | 2013-09-05 | reviewed by expert panel | research | Coding sequence variation resulting in a stop codon |
Gene |
RCV000412800 | SCV000490619 | pathogenic | not provided | 2016-06-09 | criteria provided, single submitter | clinical testing | This pathogenic variant is denoted MSH6 c.694C>T at the cDNA level and p.Gln232Ter (Q232X) at the protein level. The substitution creates a nonsense variant, which changes a Glutamine to a premature stop codon (CAG>TAG), and is predicted to cause loss of normal protein function through either protein truncation or nonsense-mediated mRNA decay. This variant was reported in a recent study (Pritchard 2012) and is considered pathogenic. |
Department of Pathology and Laboratory Medicine, |
RCV000075025 | SCV000592575 | pathogenic | Lynch syndrome | 2013-02-13 | criteria provided, single submitter | clinical testing |