Total submissions: 3
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| International Society for Gastrointestinal Hereditary Tumours |
RCV000076417 | SCV000107446 | pathogenic | Lynch syndrome | 2013-09-05 | reviewed by expert panel | research | Coding sequence variation introducing premature termination codon |
| Ambry Genetics | RCV002415567 | SCV002724918 | pathogenic | Hereditary cancer-predisposing syndrome | 2022-05-23 | criteria provided, single submitter | clinical testing | The p.E731* pathogenic mutation (also known as c.2191G>T), located in coding exon 13 of the MSH2 gene, results from a G to T substitution at nucleotide position 2191. This changes the amino acid from a glutamic acid to a stop codon within coding exon 13. This mutation was reported in a individual meeting Amsterdam criteria whose tumor was MSI-H (Spaepen M et al. Fam Cancer, 2006;5:179-89). This variant has also been identified in at least one patient with a personal and family history of breast and/or ovarian cancer (Maxwell KN et al. Am J Hum Genet, 2016 May;98:801-817). 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, |
RCV003452893 | SCV004188024 | pathogenic | Lynch syndrome 1 | 2023-08-07 | criteria provided, single submitter | clinical testing | This variant is considered pathogenic. This variant creates a termination codon and is predicted to result in premature protein truncation. |