Total submissions: 4
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| International Society for Gastrointestinal Hereditary Tumours |
RCV000076200 | SCV000107217 | pathogenic | Lynch syndrome | 2013-09-05 | reviewed by expert panel | research | Coding sequence variation introducing premature termination codon |
| Ambry Genetics | RCV000492027 | SCV000580450 | pathogenic | Hereditary cancer-predisposing syndrome | 2020-07-17 | criteria provided, single submitter | clinical testing | The c.1578delC pathogenic mutation, located in coding exon 10 of the MSH2 gene, results from a deletion of one nucleotide at nucleotide position 1578, causing a translational frameshift with a predicted alternate stop codon (p.C527Vfs*16). This alteration has been reported in one German individual diagnosed with Muir-Torre syndrome whose tumor showed high microsatellite instability and absent MSH2 staining on IHC (Mangold E et al. J Med Genet. 2004 Jul;41(7):567-72) and in a 47 year old female from the United Kingdom diagnosed with colorectal cancer (Chubb D et al. J. Clin. Oncol., 2015 Feb;33:426-32). This alteration is also described in the literature as c.1577delC. 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. |
| Myriad Genetics, |
RCV003452843 | SCV004188066 | pathogenic | Lynch syndrome 1 | 2023-08-02 | criteria provided, single submitter | clinical testing | This variant is considered pathogenic. This variant creates a frameshift predicted to result in premature protein truncation. |
| Baylor Genetics | RCV003452843 | SCV004196300 | pathogenic | Lynch syndrome 1 | 2023-08-18 | criteria provided, single submitter | clinical testing |