Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
International Society for Gastrointestinal Hereditary Tumours |
RCV000075027 | SCV000108248 | pathogenic | Lynch syndrome | 2013-09-05 | reviewed by expert panel | research | Coding sequence variation resulting in a stop codon |
Ambry Genetics | RCV002362705 | SCV002663137 | pathogenic | Hereditary cancer-predisposing syndrome | 2021-03-09 | criteria provided, single submitter | clinical testing | The c.710delG pathogenic mutation, located in coding exon 4 of the MSH6 gene, results from a deletion of one nucleotide at nucleotide position 710, causing a translational frameshift with a predicted alternate stop codon (p.G237Dfs*9). This alteration has been reported in an Australian Lynch syndrome family meeting Amsterdam II criteria (Talseth-Palmer BA et al. Hered Cancer Clin Pract, 2010 May;8:5). 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. |