Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
International Society for Gastrointestinal Hereditary Tumours |
RCV000076471 | SCV000107500 | pathogenic | Lynch syndrome | 2013-09-05 | reviewed by expert panel | research | Coding sequence variation introducing premature termination codon |
Ambry Genetics | RCV002453386 | SCV002736032 | pathogenic | Hereditary cancer-predisposing syndrome | 2021-07-12 | criteria provided, single submitter | clinical testing | The p.E808* pathogenic mutation (also known as c.2422G>T), located in coding exon 14 of the MSH2 gene, results from a G to T substitution at nucleotide position 2422. This changes the amino acid from a glutamic acid to a stop codon within coding exon 14. This alteration was identified in an individual diagnosed with multiple colorectal polyps (Fearnhead NS et al. Proc Natl Acad Sci U S A, 2004 Nov;101:15992-7). Additionally, this alteration was identified in an individual meeting clinical criteria for Lynch Syndrome (Kurzawski G et al. Clin Genet, 2006 Jan;69:40-7). 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. |