Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
International Society for Gastrointestinal Hereditary Tumours |
RCV000076386 | SCV000107413 | pathogenic | Lynch syndrome | 2013-09-05 | reviewed by expert panel | research | Coding sequence variation introducing premature termination codon |
Gene |
RCV000657647 | SCV000779394 | pathogenic | not provided | 2016-12-16 | criteria provided, single submitter | clinical testing | This variant is denoted MSH2 c.2091T>A at the cDNA level and p.Cys697Ter (C697X) at the protein level. The substitution creates a nonsense variant, which changes a Cysteine to a premature stop codon (TGT>TGA), and is predicted to cause loss of normal protein function through either protein truncation or nonsense-mediated mRNA decay. This variant has been reported in a Chinese family meeting Amsterdam Criteria for hereditary non-polyposis colorectal cancer (Cui 2004) and is considered pathogenic. |
Myriad Genetics, |
RCV003452887 | SCV004187826 | pathogenic | Lynch syndrome 1 | 2023-08-07 | criteria provided, single submitter | clinical testing | This variant is considered pathogenic. This variant creates a termination codon and is predicted to result in premature protein truncation. |