Total submissions: 3
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| International Society for Gastrointestinal Hereditary Tumours |
RCV000076279 | SCV000107300 | pathogenic | Lynch syndrome | 2013-09-05 | reviewed by expert panel | research | Coding sequence variation introducing premature termination codon |
| Ambry Genetics | RCV002399462 | SCV002711767 | pathogenic | Hereditary cancer-predisposing syndrome | 2022-05-03 | criteria provided, single submitter | clinical testing | The p.Y588* pathogenic mutation (also known as c.1764T>G), located in coding exon 12 of the MSH2 gene, results from a T to G substitution at nucleotide position 1764. This changes the amino acid from a tyrosine to a stop codon within coding exon 12. This mutation was detected in a patient with ovarian cancer at age 41, urinary bladder cancer at age 53 and six synchronous colon cancers at age 55. One of the colon tumors demonstrated high microsatellite instability and loss of MSH2 protein by immunohistochemistry (Krüger S et al. Hum Mutat, 2003 Apr;21:445-6). In a study of 1721 German probands suspected of HNPCC, this mutation was detected in one family (Mangold E et al. Int J Cancer, 2005 Sep;116:692-702). 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. |
| Constitutional Genetics Lab, |
RCV001250030 | SCV001423955 | pathogenic | Lynch-like syndrome | 2019-07-01 | no assertion criteria provided | clinical testing |