Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
International Society for Gastrointestinal Hereditary Tumours |
RCV000076039 | SCV000107052 | pathogenic | Lynch syndrome | 2013-09-05 | reviewed by expert panel | research | Coding sequence variation introducing a premature termination codon |
Ambry Genetics | RCV002444537 | SCV002732219 | pathogenic | Hereditary cancer-predisposing syndrome | 2020-10-12 | criteria provided, single submitter | clinical testing | The c.1099delG pathogenic mutation, located in coding exon 7 of the MSH2 gene, results from a deletion of one nucleotide at nucleotide position 1099, causing a translational frameshift with a predicted alternate stop codon (p.V367*). 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. |