Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
International Society for Gastrointestinal Hereditary Tumours |
RCV000076702 | SCV000107737 | pathogenic | Lynch syndrome | 2013-09-05 | reviewed by expert panel | research | Coding sequence variation resulting in a stop codon |
Ambry Genetics | RCV002390229 | SCV002668697 | pathogenic | Hereditary cancer-predisposing syndrome | 2018-12-24 | criteria provided, single submitter | clinical testing | The c.759delG pathogenic mutation, located in coding exon 4 of the MSH2 gene, results from a deletion of one nucleotide at nucleotide position 759, causing a translational frameshift with a predicted alternate stop codon (p.M253Ifs*21). This mutation was identified in a patient with ovarian and colorectal cancer (Niessen RC et al. Gut, 2006 Dec;55:1781-8). In addition to the clinical data presented in the literature, this alteration is expected to result in loss of function by premature protein truncation or nonsense-mediated mRNA decay. As such, this alteration is interpreted as a disease-causing mutation. |