Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
International Society for Gastrointestinal Hereditary Tumours |
RCV000075996 | SCV000107006 | pathogenic | Lynch syndrome | 2013-09-05 | reviewed by expert panel | research | Coding sequence variant introducing a premature termination codon |
Ambry Genetics | RCV002426633 | SCV002729587 | pathogenic | Hereditary cancer-predisposing syndrome | 2018-11-21 | criteria provided, single submitter | clinical testing | The c.1007delC variant, located in coding exon 6 of the MSH2 gene, results from a deletion of one nucleotide at nucleotide position 1007, causing a translational frameshift with a predicted alternate stop codon (p.P336Lfs*21). In a study of 1721 German probands suspected of HNPCC, this mutation (designated as c.1005_1008delCCCC) was detected in 1 family (Mangold E et al. Int J Cancer. 2005 Sep 20;116(5):692-702). 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. |