Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
International Society for Gastrointestinal Hereditary Tumours |
RCV000074873 | SCV000108085 | pathogenic | Lynch syndrome | 2013-09-05 | reviewed by expert panel | research | Coding sequence variation resulting in a stop codon |
Ambry Genetics | RCV002453382 | SCV002616391 | pathogenic | Hereditary cancer-predisposing syndrome | 2020-02-06 | criteria provided, single submitter | clinical testing | The c.3516_3519delAGTG pathogenic mutation, located in coding exon 6 of the MSH6 gene, results from a deletion of 4 nucleotides at nucleotide positions 3516 to 3519, causing a translational frameshift with a predicted alternate stop codon (p.R1172Sfs*11). This mutation has been reported in a patient diagnosed with cancer of the transverse colon at age 46 (Goldberg Y et al. Fam. Cancer, 2008 Apr;7:309-17). 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. |