Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV000491021 | SCV000580156 | pathogenic | Hereditary cancer-predisposing syndrome | 2019-01-15 | criteria provided, single submitter | clinical testing | The c.2296dupC pathogenic mutation, located in coding exon 4 of the MSH6 gene, results from a duplication of C at nucleotide position 2296, causing a translational frameshift with a predicted alternate stop codon (p.H766Pfs*6). 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. |
Myriad Genetics, |
RCV003449298 | SCV004188294 | pathogenic | Lynch syndrome 5 | 2023-08-16 | criteria provided, single submitter | clinical testing | This variant is considered pathogenic. This variant creates a frameshift predicted to result in premature protein truncation. |