Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
International Society for Gastrointestinal Hereditary Tumours |
RCV000076632 | SCV000107667 | pathogenic | Lynch syndrome | 2013-09-05 | reviewed by expert panel | research | Coding sequence variation resulting in a stop codon |
Ambry Genetics | RCV002345386 | SCV002644851 | pathogenic | Hereditary cancer-predisposing syndrome | 2021-02-25 | criteria provided, single submitter | clinical testing | The p.E177* pathogenic mutation (also known as c.529G>T), located in coding exon 3 of the MSH2 gene, results from a G to T substitution at nucleotide position 529. This changes the amino acid from a glutamic acid to a stop codon within coding exon 3. This mutation has been identified in several families with Lynch syndrome, including an individual with MSI-H colorectal cancer demonstrating loss of MSH2 protein expression by IHC (Parc Y et al. J Med Genet, 2003 Mar;40:208-13). (Bécouarn Y et al. Gastroenterol Clin Biol;29:667-75). (Bonadona V et al. JAMA, 2011 Jun;305:2304-10). 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. |